BCSC Peds Flashcards
1
Q
How many phases of growth of the axial length of the eye occur?
A
3 phases (1st – 4mm, 0-6mos; 2nd – 1mm, 2-6 yrs; 3rd – 1mm, 5-13 yrs)
2
Q
What is the normal newborn axial length of the eye?
A
15-17mm (vs. 23-24mm adult)
3
Q
What is the normal newborn corneal horizontal diameter?
A
10mm (vs. 12mm adult)
4
Q
What is the normal newborn corneal radius of curvature?
A
6.6mm-7.4mm (vs. 7.4-8.4mm adult)
5
Q
Is mild corneal clouding normal in newborns?
A
Yes, and it is expected in premature infants.
6
Q
What is the central corneal thickenss at birth?
A
0.96mm (–> 0.52mm at 6 mos)
7
Q
Does the power of the pediatric lens increase or decrease over the first years of life?
A
decrease
8
Q
Are infants hyperopic or myopic at birth?
A
Hyperopic
9
Q
What happens to the refractive state of the eye from 0-7 yrs?
A
Increasing hyperopia
10
Q
What is emmetropization?
A
The process of growth of the eye to resopnd to and cancel out refractive error in children in order to reach emmetropia
11
Q
What are the average palpebral fissure measurements in infants?
A
18mm wide, 8mm high
12
Q
Is normal IOP in children higher or lower than in adults?
A
lower, > 21 is considered abnormal in children
13
Q
What is the difference in the insertion sites of the of the EOMs relative to the limbus in children vs. adults?
A
2mm closer to limbus in newborns, 1mm closer at 6 mos, similar to adults at 20 mos
14
Q
Is vertical gaze fully functional at birth?
A
no, usually not fully functional until 6 mos
15
Q
What is the direction of retinal vascularization?
A
Centrifugal, with the optic disc as the center; does not reach temporal ora serrata until 40 wks
16
Q
What are the two major methods for quantifying visual acuity in preverbal infants/toddlers?
A
Preferential looking (PL) and Visually evoked potential (VEP)
17
Q
What type of visual acuity test is constituted by Teller acuity cards?
A
Preferential looking
18
Q
What is the average visual acuity of newborns?
A
20/600 by preferential looking, 20/400 by VEP
19
Q
When is 20/20 acuity reached in children?
A
by 3-5 yrs of age
20
Q
What is dysraphia?
A
the failure to fuse (e.g. choroidal coloboma)
21
Q
What is hypotelorism?
A
Reduced distance between the medial walls of the orbits. It is associated with over 60 syndromes.
22
Q
What is hypertelorism?
A
lateralization of the entire orbit (leading to an increase in both the inner and outer intercanthal distances) It occurs in over 550 disorders.
23
Q
What is the theoretical cause of hypertelorism?
A
early ossification of the lesser wing of the sphenoid, which fixes the orbits in the fetal position
24
Q
What is exorbitism?
A
It is defined in two different ways by different clinicians: 1) prominent eyes due to shallow orbits; 2) increased angle of divergence of orbital walls
25
What is telecanthus?
Increased distance between the inner canthi (more a measurement of the canthus itself and soft tissue than of the orbit, distinguishing it from hypertelorism)
26
What is secondary telecanthus?
Telecanthus in the presence of a normal inter-pupillary distance
27
What is dystopia canthorum?
lateral displacement of both the medial canthi and the lacrimal puncta such that the line connecting the upper and lower puncta passes over the cornea rather than sclera
28
What is cryptophthalmos?
The skin passes uninterrupted from the forehead over the eye (usually malformed) to the cheek and blends with the cornea of the eye
29
What is a common association of eyelid colobmoma?
Goldenhar syndrome
30
What is a potential complication of eyelid coloboma?
Exposure keratopathy
31
What is ankyloblepharon?
fusion of part or all of the eyelid margin
32
What is epiblepharon?
a congenital anomaly characterized by a horizontal fold of skin adjacent to either the upper or lower eyelid (usually lower). This horizontal fold of skin results in inward turning of the eyelashes against the cornea.
33
Does epiblepharon require surgery?
Usually, it resolves spontaneously in the first few years of life.
34
What is a congenital tarsal kink?
Bending backward and open of the upper eyelid. The upper tarsal plate often has a 180 degree fold
35
What is distichiasis?
Partial or complete accessory row of eyelashes growing out of (or slightly posterior to) the meibomian gland orifices
36
What is euryblepharon?
enlargement of the lateral part of the palpebral aperture with downward displacement of the temporal half of the lower eyelid. It gives the appearance of a very wide palpebral fissure or droopy lower lid
37
What is epicanthus?
a crescent-shaped fold of skin running vertically between the eyelids and overlying the inner canthus
38
How many types of epicanthus are there?
4 (tarsalis, inversus, palpebralis, supraciliaris)
39
What is the normal relative positioning of the medial and lateral canthus?
Lateral canthus 1mm higher than medial canthus
40
What 4 features comprise blepharophimosis syndrome?
1) blepharophimosis, 2) epicanthus inversus, 3) telecanthus, 4) ptosis
41
What intervention may be needed early in life for children with blepharophimosis syndrome?
Ptosis repair, possibly with frontralis suspension
42
What is the most common cause of amblyopia in patients with congenital ptosis?
Anisometropic astigmatism
43
What are aspect of ptosis evaluation?
1) presence or absence of upper eyelid fold, 2) margin-reflex distance, 3) levator function (distance lid moves from downgaze to upgaze while blocking frontalis contribution), 4) tear function, 5) corneal sensitivity, 6) photograph
44
What are surgical techniques for ptosis repair in children?
1) levator resection, 2) tucking of levator aponeurosis, 3) frontalis suspension
45
After what age can tensor fascia lata be harvested for surgical repairs such as frontalis suspension?
after 3 or 4 years of age
46
How can one test for Marcus Gunn jaw-wink in an infant?
have child suck on a bottle or pacifier
47
What are 3 ways in which maternal infections can cause ocular damage?
1) direct action, 2) teratogenic effect, 3) delayed reactivation after birth
48
What does TORCHES stand for?
TOxoplasmosis, Rubella, Cmv, Herpes, Ebv, Syphilis
49
What is the definitive host for Toxoplasma gondii?
Cats; humans can acquire the disease by ingestion of excreted oocysts from environment, undercooked meat, or contaminated drinking water
50
What are the ocular manifestations of congenital toxoplasmosis?
Retinitis, choroiditis, iritis, anterior uveitis.
51
What is the appearance of congenital toxoplasma retinitis?
Thickened, cream-colored, with overlying vitritis
52
What is the treatment of toxoplasma retinitis?
Pyrimethamine or sulfadiazine with or without steroids
53
What are the ocular manifestations of congenital rubella?
nuclear cataract (sometimes with liquefied lens cortex), glaucoma, microphthalmos, retinopathy with pigmentation
54
What ophthalmic treatment is usually required for congenital rubella?
lensectomy, treatment of inflammation with steroids, mydriatics
55
What is another term for congenital CMV infection?
cytomegalic inclusion disease
56
What are the ophthalmic manifestations of congenital CMV?
retinochoroiditis, optic nerve anomalies, microphthalmos, cataract, uveitis
57
What is the usual appearance of congenital CMV retinochoroiditis?
bilateral involvement consisting of areas of RPE atrophy and whitish opacities mixed with retinal hemorrhages
58
What are the ophthalmic manifestations in congenital HSV infection?
conjunctivitis, keratitis, retinochoroiditis, cataracts
59
What is treatment for congenital HSV infection?
systemic acyclovir
60
What are the ophthalmic manifestations of congenital syphilis?
pigmentary chorioretinitis, anterior uveitis, glaucoma, interstitial keratitis
61
What is the treatment for congenital syphilis?
Penicillin G, follow-up serologies at 2, 4, 6, and 12 mos
62
What is the primary ophthalmic manifestation of lymphocytic choriomeningitis (LCMV)?
Chorioretinal scars, similar in appearance to toxoplasmosis scars
63
What does the term ophthalmia neonatorum refer to?
It is a very broad term, referring to conjunctivitis occurring in the first month of life (due to any cause)
64
Which organism causes the most serious form of ophthalmia neonatorum?
Neiserria gonorrhoeae
65
What is the clinical presentation of neonatal gonococcal conjunctivitis?
chemosis, copious discharge, corneal ulceration starting in the first 3-4 days of life. Systemic infection can lead to sepsis, meningitis and arthritis
66
What is the treatment of gonococcal ophthalmia neonatorum?
systemic ceftriaxone, topical irrigation with saline. Topical antibiotics may be used if there is corneal involvement
67
What is the onset of neonatal chlamydial conjunctivitis?
1 week of age
68
What is the clinical presentation of chlamydial ophthalmia neonatorum?
mild swelling, hyperemia, papillary reaction (follicular reaction only after 1 month old), pseudomembrane formation, discharge
69
What is the treatment of neonatal chlamydial disease?
oral erythromycin 12.5mg/kg QID x 14 days
70
What prophylaxis can be used for gonococcal and chlamydial ophthalmia neonatorum?
erythromycin ointment/tetracycline ointment/povidone iodine drops
71
What are the most common causes of bacterial conjunctivitis in school-aged children?
S pneumoniae, Hemophilus, Moraxella
72
What is Parinaud oculoglandular syndrome (POS)?
unilateral granulomatous conjunctivitis with preauricuar and submandibular adenopathy
73
What is the most common cause of Parinaud oculoglandular syndrome?
cat-scratch disease
74
What is the treatment for Parinaud oculoglandular syndrome?
Usually supportive, as it is self-limited
75
What is treatment for trachoma in a child?
topical or systemic sulfa, erythromycin, or tetracycline
76
What is epidemic keratoconjunctivitis?
An acute follicular conjunctivitis, usually unilateral at onset with preauricular lymphadenopathy; usually occurs in epidemic outbreaks and is highly contagious
77
For how long after infection should children with EKC be kept out of school?
2 weeks
78
Is treatment indicated for purely conjunctival HSV infection?
No. Involvement of the cornea would prompt treatment, however.
79
What are the ophthalmic manifestations of primary VZV infection?
Usually mild, self-limited. Include conjunctival vesicles, ulcerations, internal ophthalmoplegia
80
What are the ophthalmic manifestations of EBV infection?
conjunctivitis with nummular keratitis
81
What is the treatment for EBV ophthalmic manifestations?
supportive, including cool compresses
82
What is the treatmnet of molluscum contagiosum lesions causing conjunctivitis?
incision and debridement of the central core from each lesion (usually requires general anesthesia for young children)
83
What is preseptal cellulitis?
an inflammatory process involving the tissues anterior to the orbital septum. It may be acompanied by eyelid edmea
84
How can preseptal cellulitis be differentiated from orbital cellulitis clinically?
No proptosis, absence of pain on eye movement indicate pre-septal
85
What are the 3 mechanisms for development of preseptal cellulitis?
1) posttraumatic, 2) secondary to severe conjunctivitis, 3) secondary to URI or sinus infection
86
Which cases of preseptal cellulitis can be treated outpatient with broad-spectrum antibiotics?
Those in children who are not systemically ill and have no signs of orbital involvement
87
Is orbital cellulitis in children under 9 years usually polymocrobial?
No, it is usually caused by a single aerobic pathogen. In children > 9 years, usually polymicrobial
88
What is the most common cause of bacterial orbital cellulitis?
Paranasal sinusitis
89
Which sinus is most commonly involved in cases of orbital cellulitis in children under 10?
ethmoid sinus
90
Emergency drainage of subperiosteal abscess is indicated for a patient of any age with what features?
1) evidence of optic nerve compromise, 2) enlargement of subperiosteal abscess or non-resolution within 48-72 hours of appropriate antibiotic administration
91
What is maxillary osteomyelitis?
infection spreading from nose into the tooth buds, presenting with unilateral erythema and edema of the lids, cheek and nose
92
What is mucormycosis?
A fungal infection of the orbit occurring most frequently in patients with ketoacidosis or severe immunosuppression
93
What is the treatment for mucormycosis?
debridement of necrotic and infective tissue and administration of amphotericin
94
What are the 3 main types of ocular allergic reactions?
1) seasonal allergic conjunctivitis, 2) vernal keratoconjunctivitis, 3) atopic keratoconjunctivitis
95
When does seasonal allergic conjunctivitis occur?
Spring and fall
96
What topical medications exist for ocular allergy?
mast-cell stabilizers (cromolyn, lodoxomide), H1-receptor blockers (naphazoline), vasoconstrictors naphazoline/pheniramine), NSAIDs (ketorolac), steroids
97
What are the two forms of VKC?
palpebral and bulbar, depending on which conjunctival surface is most affected
98
Which lid is usually affected in palpebral VKC?
upper eyelid
99
What is a Horner-Trantas dot?
A limbal nodule that is gray, jellylike with a vascular core and whitis center containing eosinophils and epithelioid cells
100
Is the lower lid usually involved in AKC?
Yes, unlike VKC
101
What is Stevens-Johnson Syndrome?
an acute inflammatory polymorphic disease affecting skin and mucous membranes.
102
What are the ocular manifestations of SJS?
mucopurulent conjunctivitis, corneal ulcers, vascularization, perforation; symblepharon
103
What is the pathogenesis of SJS?
Angiitis , leading to erythematous lesions that become edematous or bullous
104
What organism usually causes secondary infection in SJS?
Staph
105
What can be used to prevent symblepharon in a patient with SJS?
a symblepharon ring or a glass rod for symblepharon lysis
106
What are the ocular manifestations of Kawasaki disease?
anterior uveitis, possible conjunctival scarring and retinal ischemia
107
What should tearing in an infant prompt evaluation for other than lacrimal obstruction?
congenital/infantile glaucoma
108
What is atresia of the lacrimal puncta or canaliculi?
Failure to canalize of the punca or canaliculi, resulting in epiphora
109
Do supernumary puncta require treatment?
No
110
What is a congenital lacrimal fistula?
an epithelial-lined tract extending from the common canaliculus to the overlying skin surface
111
What is a dacryocele?
a lacrimal drainage blockage distal to the lacrimal sac kinks and closes off the entrance to the lacrimal sac, resulting in a closed lacrimal sac
112
How does dacryocele present?
as a bluish swelling just below and nasal to the medial canthus
113
What is a common association of dacryocele?
nasal mucocele (bulging of mucosa at the lower end of the NLD into the nasal cavity)
114
What is the incidence of NLD obstruction in infants who were born full-term?
5%
115
What is the usual cause of NLD obstruction?
a thin mucosal membrane at the lower end of the NLD
116
What is the time of onset of symptoms in NLD?
1 month of life
117
What are the 2 reasons for first performing digital massage of the lacrimal sac in congenital NLD obstruction?
1) express contents of lacrimal sac and reduce likelihood of infection, 2) potentially relieve duct obstruction by applying pressure to blocking membrane
118
What percent of patients with NLD obstruction have spontaneous resolution by 1 year of age?
70%
119
When is the appropriate time to perform NLD probing in an infant for obstruction?
Unclear. Some argue for 1 year, others argue for earlier.
120
What are reasons to perform NLD probing under genral anesthesia?
1) greater control, 2) evaluation and treatment of obstructing inferior turbinate or intranasal mucocele if present, 3) ability to employ balloon dilation or intubation if indicated
121
When is infracture of the inferior turbinate performed?
Usually only performed if there is firm resistance to the NLD probe
122
When is intbuation of the lacrimal system usually performed for NLD obstruction?
Usually after 1 or more simple probings or balloon dilations have failed
123
At what age is the adult corneal diameter reached?
2 years of age
124
What is the lower limit of corneal diameter for megalocornea?
13mm
125
What is the inheritance of megalocornea?
usually X-linked; 90% of patients with megalocornea are male
126
In which form of Ehlers-Danlos syndrome is keratoglobus known to occur?
Ehlers-Danlos Type VI
127
What are common associations of keratoconus?
Down syndrome, topic disease, chronic eye rubbing
128
What is the definition of microcornea?
Corneal diameter < 9mm in newborn, < 10mm after 2 years of age
129
What are common associations of microcornea?
oculodentodigital dysplasia syndrome, cataracts, colobomas, high myopia, PFV
130
What is posterior embryotoxon?
A prominent Schwalbe line due to central thickening and displacement of Schwalbe line
131
What syndromes are commonly associated with posterior embryotoxon?
1) Axenfeld-Rieger syndrome, 2) Alagille syndrome, 3) velocardiofacial syndrome
132
What is Schwalbe line?
The posterior termination of Descemet membrane
133
What is Axenfeld-Rieger syndrome?
A spectrum of developmental disorders characterized by anteriorly displaced Schwalbe line, attached iris strands, iris hypoplasia, anterior chamber dysgenesis, and glaucoma
134
What are common iris defects seen in Axenfeld-Reiger syndrome?
smooth cryptless iris surface, high iris insertion, iris transillumination
135
What is the mnemonic STUMPED?
It refers to the DDx for congenital corneal opacities: Sclerocornea, Tears in descemet membrane, Ulcers, Metabolic, Peters anomaly, Edema (CHED, PPMD, glaucoma), Dermoid
136
What are the primary congenital central corneal opacities?
CHED, CHSD, Dermoid
137
What is posterior corneal depression?
Increased convexity of the posterior corneal surface as seen on slit-lamp. Can be initially noticed as an abnormal red reflex on retinoscopy or ophthalmoscopy
138
What is Peters anomaly?
A posterior corneal defect with overlying stromal opacity, often accompanied by adherent iris strands (it is usually not subtle)
139
Is bilateral or unilateral Peters anomaly more likely to be associated with a syndrome?
Bilateral. Warrants complete genetic and systemic workup when bilateral.
140
What is sclerocornea?
a congenital disorder in which the cornea is opaque and resembles the sclera, making the limbus indistinct.
141
How can sclerocornea be differentiated from Peters anomaly?
Peters anomaly is usually more opaque in the central cornea, while Sclerocornea is usually less opaque in the central cornea
142
What is Congenital Hereditary Endothelial Dystrophy (CHED)?
an uncommon corneal dystrophy characterized by diffusely and uniformly edematous cornea as a result of a defect in the endothelium and Descemet membrane; this is accompanied by increased corneal thickness
143
What is a corneal dermoid?
a choristoma composed of fibrofatty tissue covered by keratinized epithelium
144
Where are most dermoids found?
the inferotemporal limbus
145
What is Congenital Hereditary Stromal Dystrophy (CHSD)?
A very rare opacification of the cornea with flaky or feathery clouding of the stroma, with a normal-thickness cornea, covered by a smooth, normal epithelium
146
When should deprivation amblyopia be reversed to achieve excellent vision?
Before 3 months. However, corneal transplantation is often unsuccessful at this age (with increased rates of rejection compared to after 1 year)
147
Where does cystinosis have the highest incidence?
French-speaking Canada
148
What are the ocular findings of cystinosis?
Iridescent elongated corneal crystals, appearing at 1 year. They are also found in the iris.
149
What is a Kayser-Fleischer ring?
The characteristic copper-colored ring limited to Descemet membrane seen in Wilson disease (due to excess copper deposition)
150
What are the ocular manifestations of familial dysautonomia?
Impaired lacrimation and decreased corneal sensitivity, leading to exposure keratitis, corneal ulcers, and secondary opacification
151
What is dyscoria?
An abnormality of the shape of the pupil due to a congenital malformation
152
How is the term aniridia a misnomer?
In aniridia, at least a rudimentary pupil is always present
153
In addition to dyscoria, what is seen in aniridia?
foveal hypoplasia, cataracts, and corneal opacification
154
What percentage of aniridic children have affected parents?
66%
155
Sporadic aniridia is associated with what condition?
Wilms tumor (which is due to deletion of WT1 gene, and is adjacent to the PAX6 gene (involved in aniridia)
156
Sporadic aniridia and Wilms tumor can be part of what complex?
WAGR (Wilms tumor, Aniridia, Genitourinary malformations, mental Retardation)
157
What is the "typical" cause of iris coloboma?
Failure of the embryonic fissure to close in the fifth week of gestation
158
What is the appearance of a "typical" iris coloboma?
A keyhole
159
What are Lisch nodules?
Melanocytic hamartomas of the iris commonly associated with NF1
160
What is juvenile xanthogranuloma?
A cutaneous disorder that can include vascular iris lesions appearing as yellowish or reddish nodules or causing heterochromia
161
What are iris mamillations?
Diffuse, tiny pigmented nodules seen on the surface of the iris (usually the same color)
162
What type of drug can cause central pupillary cysts?
Topical cholinesterase-inhibiting drops, such as phospholine iodide
163
What are Brushfield spots?
focal areas of iris stromal hyperplasia surrounded by relative hypoplasia. They occur in 90% of patients with Down syndrome.
164
Hypopigmented heterochromia in a child should prompt workup for what?
Horner syndrome
165
What is the most common developmental abnormality of the iris?
Persistent pupillary membranes (present in 95% of newborns, resolve on their own generally)
166
What are potential causes of congenital miosis?
1) absence or malformation of the pupil dilator muscle, 2) contracture from remnants of tunica vasculosa lentis
167
What are syndromic associations of congenital miosis?
1) congenital rubella, 2) hereditary ataxia, 3) Lowe oculocerebrorenal syndrome
168
What is a potential cause of Adie pupil in children?
VZV
169
What are potential causes of Horner syndome in children?
trauma, surgery, presence of neuroblastoma affecting the sympathetic chain in the chest
170
What is corectopia?
displacement of the pupil
171
What is ectopia lentis et pupillae?
Combination of lens subluxation and corectopia. Usually bilateral. Lens and pupil usually displaced in opposite directions
172
What is ectropion uveae?
Ectropion of the posterior pigment epithelium onto the anterior surface of the iris
173
What is congenital iris ectropion syndrome?
The combination of unilateral congenital iris ectropion, glassy smooth cryptless iris surface, high iris insertion, dysgenesis of the drainage angle, and glaucoma.
174
With what syndromes is congenital iris ectropion syndrome associated?
NF, facial hemihypertrophy, Prader-Willi
175
What is the inheritance of primary congenital glaucoma (PCG)?
It is actually usually sporadic, but may be inherited in an autosomal recessive manner
176
What is the incidence of primary congenital glaucoma?
1 in 2500 to 1 in 22,000
177
In what percentage of patients is primary congenital glaucoma bilateral?
66%
178
What is the age of onset for primary congenital glaucoma?
It is diagnosed at birth only 25% of the time. It presents within the first year of life in 80% of patients.
179
Where is the site of obstruction thought to be in primary congenital glaucoma?
In the TM
180
What is the classic clinical triad of primary congenital glaucoma (PCG)?
1) epiphora, 2) photophobia, 3) blepharospasm
181
What is often the presenting sign in patients with primary congenital glaucoma?
Corneal edema in infants < 3mos, often accompanied by curved breaks in Descemet membrane (Haab striae)
182
What refractive errors are susually seen in patients with PCG?
myopia and astigmatism from eye enlargement and corneal irregularity
183
What anterior chamber finding is common in PCG?
abnormally deep anterior chamber
184
How does the appearance of a normal infant's eye on gonioscopy differ from that of an adult?
1) TM is less pigmented, 2) Schwalbe line is less distinct, 3) Uveal meshwork is translucent
185
Where is the iris insertion in PCG relative to normal?
The iris insertion is more anterior than in the normal angle
186
What is the cup to disc ratio usually seen in PCG?
> 0.3
187
Can reversal of optic nerve cupping occur after IOP lowering surgery in children?
Yes
188
What is buphthalmos?
The pseudoproptosis and "ox eye" appearance of an eye with PCG
189
What manifestation of Sturge-Weber syndrome is associated with glaucoma?
Port-wine stain (nevus flammeus) of both the upper and lower eyelids
190
Which disorders can lead to lens-associated secondary glaucomas?
Marfan, homocystinuria, Weill-Marchesani, microspherophakia
191
When does aphakic glaucoma usually develop in children?
Years after lens removal in children
192
With regard to treatment, what are the two forms of glaucoma considered in children?
1) PCG, 2) everything else
193
What is the treatment of choice for PCG?
Angle surgery: goniotomy or trabeculotomy (2nd line: trabeculectomy; 3rd line: cycloablation
194
What is involved in goniotomy?
an incision is made under direct gonioscopic visualization across the TM
195
What is involved in a trabeculotomy?
Schlemm canal is identified, cannulated, and connected with the anterior chamber through incision of the trabecular meshwork from outside the anterior chamber
196
What percent of infants with PCT have successfully controlled IOP after 1 or 2 angle surgeries?
80%
197
What is cyclocryotherapy?
A form of cycloablation involving freezing the ciliary processes through the sclera
198
What is Transscleral laser cycloablation?
usage of the Nd:YAG or diode laser to ablate the ciliary processes
199
What is endoscopic cyclophotocoagulation?
Use of a microendoscope to apply laser energy to the ciliary processes under direct visualization
200
What is the treatment modality of choice for infants with glaucoma that is not PCG?
medical therapy
201
Which drug classes for IOP reduction are generally not used in children?
adrenergic agents and miotics
202
What percent of children presenting with PCG at birth become legally blind?
50% (visual prognosis is better in patients presenting from 3-12 mos)
203
What percent of children presenting with PCG at 3-12 mos can have their IOP controlled with angle surgery?
80-90%
204
What is the incidence of lens abnormalities in infants?
6/10,000
205
What are the inheritance patterns of hereditary cataracts?
Usually autosomal dominant. Occasionally X-linked and autosomal recessive.
206
Are hereditary cataracts usually unilateral or bilateral?
Always bilateral, but can be asymmetric
207
What is the appearance of an anterior polar cataract?
3mm or smaller in diameter, appearaing as a small white dot in the center of the anterior lens capsule
208
Are infantile eyes with nuclear cataracts usually larger or smaller than normal?
Smaller (with increased risk of developing glaucoma later in childhood)
209
What is a lamellar cataract?
A discrete, round (lenticular) cataract affecting 1 or more of the "rings" in the developing lens cortex. They are usually larger than nuclear cataracts (5mm or more in diameter)
210
By what age is the fixation reflex established?
2-3 months
211
What is posterior lenticonus?
A thinning of the central posterior capsule, initially creating an "oil droplet" appearance on red reflex examination
212
How long does opacification of a posterior lenticonus outpouching take?
can take years
213
In which phakomatosis are PSC cataracts seen?
NF2
214
What is the clinical appearance of Persistent Fetal Vasculature (PFV)?
a retrolental membrane attached to the posterior lens surface. The membrane can be small and centrally located, or may extend out to attach to the ciliary process in 360 degrees
215
Is PFV usually unilateral or bilateral?
unilateral almost always
216
Are eyes with PFV usually larger or smaller than normal?
Eyes with PFV are almost always microphthalmic
217
When should a unilateral congenital cataract be removed for optimal visual development in infants?
Before 6 weeks of age
218
When should bilateral congenital cataracts be removed for optimal visual development in infants?
Before 10 weeks of age
219
Beyond what age is IOL implantation (in the setting of cataract surgery) considered reasonable?
beyond 1-2 years of age
220
Is the elasticity of the lens capsule higher or lower in infants than adults?
Higher in infants
221
Is phacoemulsification needed to remove lens material in a child?
No, it can usually be readily aspirated
222
Why is posterior capsulectomy (and limited anterior vitrectomy) often performed at the time of cataract surgery in infants and young children (especially if the patient is to be left aphakic)?
Posterior capsule opacification occurs rapidly in children, and would compromise the clear visual axis achieved by cataract surgery
223
At what age can a Nd:YAG capsulotomy be performed without anesthesia?
5-6 years
224
In what period of time will a post-infant child (i.e. 4+) develop opacification of the posterior capsule after cataract surgery?
18-24 months
225
Is closure of clear corneal incisions in children safe?
Yes, and astigmatically neutral when performed with 10-0 absorbable suture
226
If a posterior approach is desired for posterior capsulectomy, where can the incision be made?
In the pars plana
227
IOLs made of what materials are used in children?
PMMA and acrylic
228
Are highly asymmetric spectacle lenses amblyogenic?
Yes
229
Are retinal detachments, macular edema, and corneal decompensation common postoperative complications of cataract surgery in children?
No, they are all rare in children after cataract surgery
230
What is a common association of of spherophakia?
ectopia lentis leading to secondary glaucoma
231
What is a lens coloboma?
flattening or notching of the lens periphery (not technically a coloboma, but referred to as one anyway)
232
Are zonular fibers usually present in a "colobomatous" region of a lens?
No, zonular fibers are usually absent in the "colobomatous" region
233
What is a luxed lens?
One that is completely detached from the ciliary body
234
What are the clinical manifestations of ecoptia lentis et pupillae other than ectopia lentis and corectopia?
microspherophakia, miosis, poor pupillary dilation with mydriatics
235
Which systemic disease is seen most often in patients with ectopia lentis?
Marfan syndrome
236
In which direction is the lens usually dislocated in Marfan syndrome?
upward (in 75% of cases)
237
Are the zonules broken in Marfan syndrome with ectopia lentis?
No, unlike homocystinuria, in which the zonular fibers are broken with ectopia lentis
238
Are patients with Marfan syndrome usually myopic or hyperopic?
Myopic (increased axial length)
239
In what direction is the lens usually dislocated in homocystinuria with ectopia lentis?
downward, but it is not diagnostic
240
How is homocystinuria diagnosed?
detection of disulfides in the urine
241
What are patients with Weill-Marchesani syndrome considered clinically, in comparison to patients with Marfan syndrome?
Weill-Marchesani patients are considered the clinical opposite of Marfan syndrome patients. WM patients are short, with short fingers and limbs.
242
What is the usual ocular manifestation in Weill-Marchesani syndrome?
Microspherophakia, with eventual anterior dislocation of the lens and pupillary block glaucoma
243
What is the ocular manifestation of sulfite oxidase deficiency?
Ectopia lentis
244
Does posterior uveitis account for a smaller or larger proportion of uveitis cases in children than adults?
Posterior uveitis accounts for a larger proportion of uveitis cases in children than in adults
245
Under what name are all idiopathic childhood arthritides included?
Juvenile Idiopathic Arthritis (JIA)
246
What are the subtypes of JIA?
1) Systemic, 2) Oligo, 3) Poly (RF-neg), 4) Poly (RF-pos), 5) Psoriatic, 6) Enthesitis-related, 7) Other
247
Which subtypes of JIA are important causes of uveitis in children?
1) Oligo, 2) Poly (RF-neg), 3) Psoriatic, 4) Enthesitis-related
248
What is the most frequent type of chronic arthritis in children in North America?
Oligoarthritis
249
What types of uveitis are most likely to occur in oligoarthritis?
Anterior uveitis and iritis
250
In what percent of children with RF-negative polyarthritis does uveitis develop?
10%
251
What 4 primary factors affect the likelihood of children with JIA developing uveitis?
1) category of arthritis (oligo or poly increases risk), 2) age of onset of arthritis (younger age at onset increases risk), 3) ANA-positivity (presence increases risk), 4) gender (female increases risk)
252
Is JIA-associated uveitis usually bilateral or unilateral?
bilateral (although the enthesitis-related arthritis subtype usually presents with unilateral uveitis)
253
Is JIA-associated uveitis usually granulomatous or non-granulomatous?
non-granulomatous
254
What type of keratic precipitates are seen in JIA-associated uveitis?
Fine to medium-sized KPs
255
What conditions can chronic inflammation in JIA-associated uveitis lead to?
1) band keratopathy, 2) posterior synechiae, 3) ciliary membrane formation, 4) hypotony, 5) cataract, 6) glaucoma, 7) phthisis
256
Is uveitis seen in Tubulointerstitial Nephritis and Uveitis syndrome usually bilateral or unilateral?
Bilateral
257
Can pediatric orbital pseudotumor cause an anterior uveitis?
Yes
258
Where is inflammation seen in intermediate uveitis?
In the vitreous base overlying the ciliary body, pars plana, and peripheral retina, as well as the anterior vitreous
259
What percentage of pediatric uveitis is intermediate uveitis?
25%
260
What is the most common cause of posterior uveitis in children?
Toxoplasmosis
261
What are common ocular manifestations of ocular toxocariasis?
1) posterior pole granuloma with macular traction, 2) endophthalmitis, 3) leukocoria, 4) strabismus, 5) decreased vision
262
Is the incidence of lung disease in sarcoidosis higher or lower in children than adults?
lower in children
263
What is the most common ocular manifestation of sarcoidosis in children?
Anterior uveitis, although posterior uveitis may also occur
264
Which diseases are in the differential for Familial Juvenile Systemic Granulomatosis?
JIA and sarcoidosis
265
What complications of VKH syndrome are more likely in children than adults?
Cataract and glaucoma. Children have a poorer overall visual prognosis with VKH than adults.
266
What are the causes of panuveitis in children?
Sarcoidosis, Familial Juvenile Systemic Granulomatosis, VKH, Bechet syndrome, and several infectious diseases
267
Can AC flare (protein) persist after inflammation has been successfully treated and AC cell has resolved?
Yes
268
For how long after an injection can periocular steroids produce an elevation in IOP?
weeks to months
269
What are risks of long-term systemic corticosteroid use in children other than glaucoma and cataract?
1) growth retardation, 2) osteoporosis, 3) cushingoid appearance, 4) diabetes, 5) peptic ulcers, 6) myopathy, 7) HTN, 8) altered mental status, 9) pseudotumor cerebri, 10) increased risk of infection
270
Which 2 NSAIDs used to treat arthritides in children can also be effective in treating uveitis?
Naproxen and tolmetin
271
What is the most commonly used antimetabolite in treating children with arthritis and uveitis?
Methotrexate
272
Are alkylating agents commonly used in treating children with uveitis?
No, they have many serious adverse effects in children
273
How can band keratopathy be treated?
Debridement of corneal epithelium followed by chelation with EDTA
274
What is the most common cause of a unilateral cataract in children?
Persistent Fetal Vasculature (PFV)
275
What is the clinical presentation of a severe case of PFV?
1) Microphthalmic eye, 2) dense retrolental plaque leading to cataract, 3) thick fibrous persistent hyaloid artery, 4) prominent radial iris vessels, 5) congenital retinal nonattachment, 6) optic nerve dysmorphism, 7) shallow anterior chamber, 8) angle closure glaucoma
276
What are the keys to treatment of eyes with PFV?
Early cataract surgery and retrolental membrane excision
277
When does retinal vascular development begin?
week 16 of gestation
278
What is the source of retinal vessels?
Mesenchymal tissue containing spindle cells
279
When in development are the nasal and temporal ora serrata reached by retinal vessels?
Nasal ora serrata: 8th month; Temporal ora serrata: 9th month (or even later)
280
What percent of infants weighing less than 1251g at birth develop ROP?
68%
281
How are gestational age at birth and birth weight correlated with the likelihood of development of ROP?
Inversely correlated
282
Did the LIGHT-ROP study indicate a role for premature exposure to light in the development of ROP?
No, limiting light exposure did not decrease the incidence of ROP
283
What is the most commonly used classification for ROP at present?
International Classification of ROP (ICROP), which describes the disease by stage, zone, and extent
284
What are the 3 retinal zones in the ICROP classification of ROP?
I -- circle with radius 30 deg centered at disc; II -- annulus surrounding zone I ending at the nasal ora serrata; III -- remaining retina including temporal ora serrata
285
How is "Extent" described in the ICROP classification of ROP?
Number of clock hours
286
What is "Plus" disease in the ICROP classification of ROP?
"Plus" indicates that vascular shunting is so marked that the veins are enlarged and the arteries are tortuous in the posterior pole
287
What are the Stages (0-5) of ROP in the ICROP classification?
0 -- no ROP; 1 -- demarcation line without height; 2 -- demarcation line with height; 3 -- demarcation line with height AND extraretinal fibrovascular proliferation; 4) sbtotal retinal detachment (A: Extrafoveal, B: Including Fovea); 5) Total retinal detachment
288
What is "Pre-plus" disease in the ICROP classification of ROP?
Abnormal venous dilation and arteriolar tortuosity, but less so than in the Plus disease "standard photograph"
289
What is "threshold" ROP disease, as defined in the CRYO-ROP trial?
5 contiguous or 8 total clock-hours of: Stage 3 ROP in zone I or II with Plus disease
290
Is the macula part of Zone I, per the ICROP definitions?
Yes
291
What are the 2 types of "Prethreshold ROP" per the ETROP trial?
Type 1 -- Zone I, any stage AND (+); Zone I, stage 3 NO (+); Zone II, stage 2 or 3 AND (+). Type 2 -- Zone I, stage 1 or 2 NO (+); Zone II, stage 3 NO (+)
292
Which infants should be examined for ROP?
Any of: 1) gestational age < 30wks, 2) birth weight < 1500g, 3) birth weight 1500-2000g AND ( O2 supplementation OR unstable course )
293
When should the first examination for ROP be performed?
4-5 weeks after birth or 30-31 weeks gestational age, whichever is later
294
What mydriatic agent is recommended for ROP examination of infants?
Cyclomydril (0.2% cyclopentolate and 1.0% phenylephrine)
295
How often should follow-up ROP exams be performed after the first exam?
Every 1-2 weeks
296
When can follow-up ROP exams be ceased?
After retinal vessels have grown normally into zone III OR ( the patient is > 44-46 weeks postmenstrual age AND has not yet developed ROP )
297
What results was achieved by applying cryotherapy for ROP in patients with threshold disease?
50% reduction in retinal detachment compared to observation
298
Which is more severe, Prethreshold Type I disease or Type II?
Prethreshold Type I disease is worse than Type II (arguably unintuitive)
299
What did the ETROP study demonstrate?
That treatment at Prethreshold Type I or Threshold resulted in better outcomes than waiting until Threshold to treat
300
Which is more commonly used for treatment of ROP, laser photocoagulation or cryotherapy?
At present laser, has supplanted cryotherapy in the US as the treatment of choice for ROP
301
Is myopia a common sequela of ROP?
Yes
302
How does pseudostrabismus result from ROP?
Dragging of the macula can occur in ROP, which may give the appearance of an exotropia
303
What are the classic findings of Coats disease?
Yellow subretinal and intraretinal lipid exudates associated with retinal vascular abnormalities (telangiectasia, tortuosity, aneurysms, avascularity)
304
What is a common consequence of Coats disease that results in poor visual prognosis?
retinal detachment including the fovea, with organization of subretinal exudate
305
What is the average age at diagnosis of Coats disease?
6-8 years old
306
How can progression of Coats disease be stopped?
Destruction of leaking vessels (usually with laser photocoagulation or cryotherapy)
307
When is the usual onset of nystagmus in a child with hereditary retinal disease?
8-12 weeks old
308
What tests are available for evaluation of retinal disease in school-aged children?
ERG, EOG, color vision testing, visual fields, dark adaptation testing
309
What are the clinical characteristics of Leber Congenital Amaurosis (LCA)?
severe vision loss in infancy, nystagmus, poorly reactive pupils, extinguished ERG
310
What is the DDx for LCA?
achromatopsia, congenital stationary night blindness, albinism, optic nerve hypoplasia
311
Is there a single genetic test for LCA?
No, there are at least 14 different genetic mutations known to cause LCA and 30% of cases do not have recognizable mutations
312
What is hemeralopia?
The inability to see clearly in bright light
313
What are the findings in complete achromatopsia (also called rod monochromatism)?
no color vision, poor central vision, nystagmus, photophobia
314
What is the inheritance of the most common form of Congenital Stationary Night Blindness?
X-linked recessive
315
What is the ophthalmoscopic appearance of foveal hypoplasia?
Decreased or absent foveal reflex
316
What are the two most common hereditary macular disorders?
Stargardt disease (juvenile macular degeneration) and Best disease (juvenile-onset vitelliform macular dystrophy)
317
What are the characteristic fundus changes seen in Stargardt disease?
Macular bull's eye atrophy with possible "beaten bronze" appearance and surrounding round or pisciform yellow flecks at the level of the RPE
318
What is the "dark choroid sign?"
A sign on fluorescein angiography resulting from blockage of choroidal fluorescein due to accumulation of lipfuscin-like pigment throughout the RPE. It is present in 80% of patients with Stargardt disease.
319
What is fundus flavimaculatus?
A term used to describe a fundus with pisciform yellow flecks throughout at the level of the RPE
320
What is the inheritance of Best disease?
Autosomal dominant
321
What is the characteristic fundus appearance in Best disease?
an egg yolk-like (vitelliform) cystic structure in the macula 1.5 to 5 disc diameters in size appearing between the ages of 4 and 10 years
322
Best disease is caused by mutations in which gene?
VMD2 gene, also called bestrophin, on chromosome 11
323
What is the inheritance of Juvenile Retinoschisis?
X-linked recessive
324
Where does retinoschisis occur in Juvenile Retinoschisis?
in the NFL
325
What is the appearance of the fovea in juvenile retinoschisis?
star-shaped or spokelike
326
Juvenile retinoschisis is caused by mutation of which gene?
RS1
327
What are the ophthalmic manifestations of Stickler syndrome?
High myopia with high incidence of rhegmatogenous retinal detachment, lattice degeneration, and proliferative vitreoretinopathy. A hallmark of the syndrome is vitreous liquefaction.
328
Which types of Stickler syndrome demonstrate ocular features?
1, 2, and 4 (4 demonstrates only ocular features)
329
What are the ocular features of Familial exudative vitreoretinopathy (FEVR)?
retinal traction, folds, breaks, detachment, avascular peripheral retina, and retinal and subretinal exudates
330
What is the DDx of FEVR?
ROP and Coats disease
331
What are the ocular findings in Norrie disease?
Distinctive globular, severely dystrophic retina with pigmentary changes in the avascular periphery. Often presents with congenital blindness.
332
What is the inheritance of Norrie disease?
X-linked recessive
333
What are the clinical features of Goldmann-Favre Vitreoretinal Dystrophy?
Vitreous strands and veils in addition to foveal and peripheral retinoschisis
334
What refractive change can result from a sudden increase in blood glucose?
Myopic shift
335
What refractive change can result from a sudden decrease in blood glucose?
Hyperopic shift
336
Do children 9 or under require screening for diabetic retinopathy?
Per AAP guidelines, no, even if the child has had DM for 3-5 years.
337
What are the most common eye findings in leukemia in children?
Retinal hemorrhages. In particular, flame shaped hemorrhages occurring in the NFL.
338
What is the appearance of optic nerve involvement in leukemia?
Infiltration of the optic disc by leukemic cells results in translucent swelling of the disc, obscuring normal landmarks. The disc appearance is similar to that in papilledema, but can progress to appearing only as a white mass.
339
What are the major ophthalmic findings in all forms of albinism?
1) iris transillumination, 2) foveal hypoplasia or aplasia, 3) characteristic deficit of retinal pigmentation
340
What are the two forms of albinism involving the eye?
Oculocutaneous albinism (OCA) and ocular albinism (OA)
341
What abnormality is seen in the optic chiasm of a patient with albinism?
Abnormally large number of crossed fibers in the optic chiasm. This results in "misrouting" seen on VEP that is highly sensitive for albinism.
342
Which two syndromes can include albinism?
Hermansky-Pudlak and Chediak-Higashi
343
About what should all patients with albinism be counseled?
Risk of skin cancer
344
What is the most common eye defect in Lowe syndrome?
congenital bilateral cataracts
345
What lens finding can female carriers of Lowe syndrome demonstrate?
Punctate snowflake opacities oriented in a radial fashion within the lens cortex
346
What are the ophthalmic manifestations of Alport syndrome?
1) cataract, 2) anterior lenticonus, 3) fleck retinopathy
347
What is the etiology of a "cherry red spot" at the fovea?
Loss of transparency of the perifoveal retina due to edema or deposition of abnormal materials in retinal ganglion cells (which are not present in the fovea).
348
What type of disorder is associated with a "cherry red spot" finding?
Neurometabolic disorders
349
Does the absence of a cherry red spot in older children rule out the diagnosis of a neurometabolic disorder?
No, absence of cherry red spot may be due to death of the formerly intumescent and whitish appearing retinal ganglion cells.
350
Which disease is the most common of the gangliosidoses?
GM2 type I gangliosidosis (Tay-Sachs disease)
351
At what age is vision decreased in Tay-Sachs disease?
12-18 months
352
Other than cherry-red spot, what are 3 primary ophthalmic manifestations of Tay-Sachs disease?
1) nystagmus, 2) optic atrophy, 3) narrowing of retinal vessels
353
What are the two potential causes for a Morning Glory Disc anomaly?
1) abnormal closure of the embryonic fissure or 2) abnormal development of the distal optic stalk at its junction with the primitive optic vesicle
354
What are 3 primary features of the appearance of a Morning Glory Disc (MGD) anomaly?
1) Funnel-shaped excavation of the posterior fundus incorporating the optic disc, 2) surrounding RPE elevation, 3) central core of white glial tissue occupying position of normal cup
355
What workups should be performed in patients with MGD?
MRI and MRA to check for associated abnormalities of the carotid circulation (including moyamoya disease)
356
What does mild optic disc coloboma resemble?
Deep cupping of the optic nerve. May be confused with glaucomatous damage.
357
Where are retinal ganglion cell axons myelinated normally?
From LGN to lamina cribrosa. NOT in the retina.
358
What is the visual field result of myelination of nerve fibers in the RNFL?
absolute scotomata corresponding to the myelinated areas
359
What is the appearance of myelinated retinal nerve fibers?
1) White superficial retinal area with feathered edges, 2) obscuration of retinal vessels, 3) often located along the disc margin
360
What is the usual orientation of disc tilting in Tilted Disc Syndrome?
Superior pole tilted anteriorly (appearing elevated) and Inferior pole tilted posteriorly. May occasionally be tilted horizontally.
361
What is a Bergmeister papilla?
A remnant of the hyaloid artery consisting of only glial tissue on the disc in association with pre-papillary veils and epi-papillary membranes
362
What is the common refractive error seen in patients with Tilted Disc Syndrome (TDS)?
Myopic astigmatism
363
Tilted Discs combined with myopic astigmatism, decreased vision, and poor night vision indicate what syndrome?
X-linked CSNB
364
What is megalopapilla?
an abnormally large optic disc diameter, often associated with an increased cup-disc ratio
365
What is optic nerve hypoplasia (ONH)?
decreased number of axons in the optic nerve
366
What is the "double ring sign?"
A yellow to white ring around the optic disc seen in Optic Nerve Hypoplasia (ONH). Outer ring: normal junction between sclera and lamina cribrosa. Inner ring: abnormal extension of retina over outer portion of lamina cribrosa.
367
Cerebral hemisphere abnormalities occur in what percentage of patients with ONH?
45%
368
What percent of patients with ONH have pituitary abnormalities?
15%
369
What maternal ingestions are associated with ONH?
1) phenytoin, 2) quinine, 3) LSD, 4) alcohol
370
Where do optic nerve pits usually occur?
Inferotemporal quadrant or central portion of disc
371
What is peripapillary staphyloma?
posterior bulging of the sclera in which the optic disc occupies the "bottom of the bowl"
372
What is the age of onset of dominant optic atrophy?
Before 10 years of age
373
What is the color vision deficit in dominant optic atrophy?
tritan dyschromatopsia
374
Is external ophthalmoplegia associated with Behr Optic Atrophy?
Yes
375
What is the inheritance of Leber Hereditary Optic Neuropathy (LHON)?
Maternal (mitochondrial)
376
What are the 3 hallmark findings at presentation of LHON?
1) acute or subacute bilateral loss of central vision, 2) acquired red-green dyschromatopsia, 3) central or cecocentral scotoma
377
What is the age of onset of LHON?
10s to 30s
378
Is LHON seen in predominantly males or females?
males
379
What cardiac arrhythmia is associated with LHON?
Wolff-Parkinson-White syndrome
380
Mutation in what is responsible for LHON?
Complex I (NADH: ubiquinone oxidoreductase)
381
Is optic neuritis in children more or less often bilateral than in adults?
more often bilateral in children
382
Is there an agreed upon treatment for optic neuritis in children?
No, steroids are controversial for optic neuritis in children
383
What findings are indicated by the term neuroretinitis?
Inflammatory disc edema associated with macular star formation
384
What are common etiologies of neuroretinitis in children?
1) Cat-scratch disease, 2) Mumps, 3) Toxocara, 4) TB, 5) Syphilis
385
How can intracranial pressure be assessed in infants clinically, without the use of an ophthalmoscope?
Assessment of the open fontanelles for distention and firmness
386
Is there a gender predominance of IIH in prepubescent children?
No, only female predominance in post-pubescent children and adults
387
What medical treatments are available for IIH?
Acetazolamide and topiramate
388
What are common etiologies of pseudopapilledema in children?
1) Optic disc drusen, 2) hyperopia, 3) prominent glial tissue
389
Children with which two conditions have a higher incidence of optic disc drusen than the general population?
1) Pseudoxanthoma elasticum, 2) Retinitis pigmentosa
390
What are the 3 categories of children presenting with nystagmus?
1) Motor defect compatible with good visual function, 2) ocular abnormality that may affect visual development, 3) Neurologic abnormality requiring immediate intervention
391
Where is the null point of nystagmus usually located?
the gaze opposite the fast-phase direction (Alexander's law)
392
What is the null point of nystagmus?
The gaze location where the nystagmus is minimal (typically seen in jerk nystagmus).
393
What type of head turn and gaze preference would a patient with a right jerk nystagmus likely adopt (in accordance with Alexander's law)?
Left gaze preference and right head turn to compensate for left gaze preference.
394
What are the characteristics of congenital motor nystagmus?
1) Binocular, 2) conjugate, 3) horizontal
395
Is oscillopsia common in congenital motor nystagmus?
No, it is rare.
396
Does convergence dampen congenital motor nystagmus?
Yes.
397
What effect is damping with convergence in congenital motor nystagmus thought to have on eye alignment?
It is thought to induce an esotropia (situation is termed nystagmus blockage syndrome)
398
What percent of patients with CMN exhibit paradoxical inversion of the OKN response?
67%
399
What is the cause of congenital sensory nystagmus?
bilateral, pregeniculate, afferent visual pathway abnormality
400
What is the typical orientation of congenital sensory nystagmus?
Horizontal
401
With what congenital disorder is congenital Periodic Alternating Nystagmus (PAN) associated?
oculocutaneous albinism
402
What does latent nystagmus indicate?
maldevelopment of fusion
403
What are the characteristics of latent nystagmus?
conjugate, horizontal, jerk
404
What happens when one eye is occluded with a child who has latent nystagmus?
A jerk nystagmus develops in both eyes, with the fast phase directed toward the uncovered eye
405
Where is the null point in latent nystagmus?
With the fixating eye held in adduction
406
What increases latent nystagmus?
disruption of fusion
407
What should be avoided when testing visual acuity of a patient with latent nystagmus?
occlusion of the non-tested eye, since optimal visual acuity is achieved with fusion (and damping of nystagmus)
408
What is spasmus nutans?
an acquired nystagmus presenting by age 2 years as a triad of 1) nystagmus, 2) head nodding, and 3) torticollis
409
What is a mnemonic for the direction of torsion in see-saw nystagmus?
Think of the eye "rolling down the plank" of the see-saw --> high eye intorts, low eye extorts
410
What is the intracranial tumor most commonly associated with see-saw nystagmus in children?
Craniopharyngioma
411
Where is the lesion causing see-saw nystagmus usually found?
rostral midbrain or suprasellar area
412
What are the two common causes of convergence-retraction nystagmus in children?
1) congenital aqueductal stenosis, 2) pinealoma
413
Is opsoclonus a true nystagmus?
No, it does not have a slow phase.
414
What is opsoclonus?
a very high frequency, low-amplitude movement of the eyes
415
What are the three common causes of opsoclonus in children?
1) postinfectious cerebellar ataxia, 2) epidemic viral encephalitis, 3) paraneoplastic manifestation of occult neuroblastoma
416
What is a common cause of acquired downbeat nystagmus in children?
Arnold-Chiari malformation
417
What is dissociated nystagmus?
nystagmus only in the abducting eye
418
What is are the usual characteristics of a monocular nystagmus?
pendular oscillation, vertical, low irregular frequency, low amplitude
419
To correct a head position associated with nystagmus, which direction should the base of the prisms be facing?
In the direction of the fast phase. (The apex of each prism will point in the direction of the null point)
420
What is a limitation of prism treatment of a nystagmus-induced head turn?
Unlike surgery, prisms will not bring the eyes out of the gaze position necessary to achieve the null zone
421
What does muscle surgery for nystagmus-induced head turn attempt to do?
shift the null point closer to primary position
422
What is the name given to the bilateral recession-resection procedure used to treat nystagmus-induced head turn?
Kestenbaum-Anderson procedure
423
In which direction is a head turn in conjugate horizontal nystagmus?
In the same direction as the fast phase of the nystagmus
424
What are 5 aspects of the clinical presentation of nearly all space-occupying lesions of the orbit?
1) proptosis/globe displacement, 2) swelling of the eyelids, 3) palpable subcutaneous mass, 4) ptosis, 5) strabismus
425
What are the 8 classes of orbital lesions?
1) Cystic, 2) Vascular, 3) Inflammatory, 4) Lymphoproliferative, 5) Mesodermal, 6) Neurogenic, 7) Lacrimal gland, 8) Metastatic
426
What are the 7 classes of eyelid lesions in children?
1) Chalazion, 2) Hordeolum, 3) Benign epithelial and appendage tumors, 4) Papilloma, 5) Molluscum, 6) Cutaneous horn, 7) Rhabdomyosarcoma
427
What are the 6 classes of epibulbar lesions in children?
1) Papilloma, 2) Limbal dermoid, 3) Choroidal osteoma, 4) Choroidal melanoma, 5) teratoma, 6) Rhabdomyosarcoma
428
Do sarcomas form the majority of primary malignant orbital tumors in children?
Yes
429
What is the most common primary pediatric orbital malignant tumor?
Rhabdomyosarcoma
430
Should primary diagnosis of rhabdomyosarcoma be made with FNAB?
No
431
What are the most common histopathologic types of rhabdomyosarcoma in decreasing order of frequency?
1) embryonal, 2) alveolar, 3) botryoid
432
What is the 5-year survival of patients with primary orbital embryonal type rhabdomyosarcoma?
94%
433
What is the most common site of ocular metastasis and children?
The orbit
434
What is the mean age at diagnosis of patients with orbital neuroblastoma metastasis?
2 years
435
What percent of patients with neuroblastoma show clinical evidence of orbital involvement?
20%
436
What type of eye movement is a characteristic paraneoplastic finding associated with neuroblastoma?
Opsoclonus
437
What is the second most common form of orbital metastasis and children?
Ewing sarcoma
438
What is the most common malignant disease of childhood?
Leukemia
439
What percent of cases of childhood leukemia are acute?
95%
440
Is lymphoma likely to involve the orbit and children?
No
441
The old terms cavernous hemangioma, port-wine stain, and lymphangioma should all be called what under new nomenclature?
Vascular malformations
442
The old terms capillary hemangioma and strawberry hemangioma should now be referred to as what?
Simply, "hemangioma"
443
What are hemangiomas?
Hamartomatous growths composed of proliferating capillary endothelial cells
444
What are two common forms of hemangioma classification?
1) by depth of skin involvement (superficial/deep/mixed), 2) by type of orbital involvement (preseptal/intraorbital/mixed)
445
What is the incidence of hemangioma in newborns?
1% to 3%
446
What complications may occur during the rapid growth phase of the hemangioma?
Ulceration, hemorrhage, astigmatism, amblyopia
447
When do hemangiomas usually tend to begin to regress?
After one year of life
448
What are they eye abnormalities associated with PHACE(S) syndrome?
hemangiomas, increased retinal vascularity, microphthalmia, ONH, exophthalmos, strabismus, colobomas, cataracts, and glaucoma
449
Infants with more than how many visible hemangiomas should be evaluated for visceral hemangiomas?
more than 3 cutaneous lesions
450
What routes of administration can be used with steroid treatment for hemangiomas in children?
Topical, Intralesional, Systemic
451
What dosing of propranolol has been shown to induce involution of most hemangiomas?
0.5 to 2mg/kg/day in 3 divided oral doses
452
Which topical beta blocker has shown efficacy as a topical treatment for hemangiomas?
timolol maleate
453
What are vascular malformations?
developmental anomalies that can be derived from capillary, venous, arterial, or lymphatic vessels
454
Do vascular malformations exhibit significant growth?
no, they are relatively static, especially when compared to hemangiomas
455
What is another term for Sturge-Weber syndrome?
Encephalotrigeminal angiomatosis
456
What is the technical term for a port wine stain (nevus flaemmus)?
A capillary malformation
457
Is glaucoma a complication of Sturge-Weber syndrome?
Yes, and it can be difficult to treat in Sturge-Weber syndrome
458
What percentage of optic pathway gliomas are associated with NF1?
20%
459
What is meant by the term choristoma?
A growth consisting of normal cells and tissues appearaing at an abnormal location
460
What is the most common space occupying orbital lesion of childhood?
Dermoid cyst
461
What is a teratoma?
A choristomatous tumor containing multiple tissues derived from all 3 germinal layers
462
Are orbital teratomas usually malignant in children?
No, unlike teratomas found at other locations
463
How does the childhood form of idiopathic orbital inflammatory disease (orbital pseudotumor) differ from the adult form?
The childhood form is more acute and painful. It resembles an orbital cellulitis rather than tumor or TED
464
What are common features of orbital myositis?
Diplopia, conjunctival chemosis, orbital pain
465
What is the usual natural history of papillomas in children?
They are usually caused by a viral infection and tend to disappear spontaneously.
466
Can oral cimetidine be used to treat papillomas in children?
Yes
467
Are dermoid tumors and dermoid cysts related?
No, they are completely different entities
468
What is the usual appearance of a limbal dermoid tumor?
1) whitish dome-shaped mass, 2) usually located in inferotemporal quadrant, 3) diameter of 2-10mm, 4) thickness of 1-3mm
469
Is there urgency to remove a limbal dermoid tumor?
No, unless irritation signficant or amblyopia is present
470
Are PAM or malignant melanoma of the conjunctiva common in childhood?
No, both are extremely rare in childhood
471
What is the difference between chalazia and hordeola?
Chalazia arise from blocked meibomian glands, while hordeola arise from blocked eccrine and apocrine glands
472
Does the treatment for chalazia and hordeola different?
Not significantly -- both can be treated with lid scrubs, warm compresses, doxycycline (> 8 yo), and surgery if chronic or large
473
What is juvenile xanthogranuloma (JXG)?
a nonneoplastic histiocytic proliferation involving Touton giant cells that develops in infants < 2 years old
474
What is the treatment usually required for a medulloepithelioma (diktyoma) of the ciliary body?
Enucleation
475
What is the appearance of CHRPE?
1) sharply demarcated, 2) flat, 3) hyperpigmented, 4) isolated, multifocal, or grouped (bear tracks)
476
What condition is strongly associated with CHRPE?
Familial adenomatous polyposis (FAP)
477
What is Gardner syndrome?
a phenotypic variant of FAP
478
What is the most common malignant ocular tumor of childhood?
retinoblastoma
479
What is the incidence of retinoblastoma?
1 in 15,000
480
What is the most common initial sign of retinoblastoma?
leukocoria
481
Can spontaneous regression of retinoblastoma occur?
Yes, resulting in the development of a benign retinocytoma or phthisis bulbi
482
Why is MRI preferred over CT for evaluation of retinoblastoma?
Retinoblastoma patients have high risk of secondary tumors
483
For what does the RB1 gene code?
a tumor suppressor protein called pRB
484
Should a surgeon performing enucleation for retinoblastoma obtain a long segment of optic nerve?
Yes
485
What is the most commonly used vision-sparing techique for treatment of retinoblastoma?
chemotherapy (chemoreduction) followed by local therapy (cryo, laser thermo, or plaque radiotherapy)
486
What is the most common retinal lesion simulating retinoblastoma?
Coats disease
487
What is a distinction that helps identify retinoblastoma on multiple imaging modalities among the many potential causes of leukocoria?
presence of calcium
488
Why is external beam radiotherapy seldom used as the primary treatment of intraocular retinoblastoma?
High association with development of craniofacial deformity and secondary tumors in radiation field
489
What is the likelihood of a patient with a unifocal retinoblastoma tumor in one eye developing retinoblastoma in the fellow eye?
20%
490
What is another term for phakomatosis?
Neurocutaneous syndrome
491
Where are the lesions of phakomatoses usually found?
CNS and skin (hence the alternate name Neurocutaneous syndromes). All the major phakomatoses have eye findings as well.
492
What histopathologic classification is usually given to the lesions of the phakomatoses?
Hamartoma
493
What is another name for von Hippel-Lindau disease?
Angiomatosis of the retina and cerebellum
494
What is another name for Sturge-Weber syndrome?
encephalofacial or encephalotrigeminal angiomatosis
495
What are the four major phakomatoses?
1) Neurofibromatosis, 2) Tuberous Sclerosis, 3) von Hippel Lindau, 3) Sturge-Weber
496
From what origin do melanocytes and neuroglial cells both derive?
neural crest mesenchyme
497
What is the penetrance of NF1?
Nearly 100%
498
What is the inheritance of NF1 and NF2?
Autosomal dominant for both
499
On which chromosomes are the NF1 and NF2 genes found?
17 and 22, respectively
500
For what does the NF1 gene code?
neurofibromin, which is involved in regulation of cellular proliferation and tumor suppression
501
Which form of NF is more common?
NF1 by far, with prevalence of 1/3000
502
How many criteria out of the 7 for diagnosis of NF1 are required for diagnosis?
only 2 of 7
503
What is the apperance of cafe-au-lait spots?
1) flat, 2) sharply demarcated, 3) uniformly hyperpigmented macules, 4) varying shape and size
504
What are the 7 criteria used in diagnosis of NF1?
1) 6+ CAL spots >5mm (>15mm postpubescent), 2) 2+ neurofibromas or 1+ plexiform neurofibroma, 3) freckling of intertriginous areas, 4) 2+ Lisch nodules, 5) optic pathway glioma, 6) a distinctive osseous lesion (sphenoid bone dysplasia or thinning of long-bone cortex), 7) 1st degree relative with NF1
505
What are Lisch nodules?
1) small (<1mm), 2) melanocytic, 3) sharply demarcated, 4) dome-shaped excrescences of the iris
506
How does the appearance of Lisch nodules differ on light and dark irides?
On dark irides, Lisch nodules appear LIGHTER than surroundings. On light irides, Lisch nodules appear DARKER than surroundings
507
What are the two primary types of neurofibromas in NF1?
1) Nodular neurofibromas (more common), 2) Plexiform neurofibromas (more clinically significant)
508
What percent of plexiform neurofibromas involve the face?
10% (often the upper eyelid and orbit)
509
What characteristic configuration of the upper eyelid is seen with presence of a plexiform neurofibroma?
S-shaped configuration. Eyelid looks too big for eye.
510
What are complications of a plexiform neurofibroma involving the upper eyelid?
Ptosis --> amblyopia, conjunctival irritation, glaucoma (50%)
511
Can plexiform neurofibromas undergo malignant change?
Yes, but rarely do.
512
Is full surgical excision of a plexiform neurofibroma involving the eyelid usually possible?
No, it is generally not possible.
513
What histologic characterization do optic pathway gliomas of NF1 generally have?
low-grade pilocytic astrocytoma
514
What percent of patients with NF1 have an optic pathway glioma?
15% (1%-5% have symptomatic optic pathway gliomas)
515
When do symptomatic optic pathway gliomas in NF1 usually present?
Before the patient is 10 years old
516
What are possible complications of optic pathway glioma?
1) vision loss, 2) hydrocephalus, 3) hypothalmic dysfunction, 4) pituitary dysfunction, 5) death
517
What is buphthalmos?
Enlargement of the cornea and globe as a whole in the due to increased IOP in the first 2 years of life
518
What features should be included in an exam on a patient suspected of having NF1?
1) vision assessment (both acuity and color discrimination), 2) assessment for APD, 3) examination of iris at slit-lamp, 4) assessment for disc pallor or edema, 5) IOP measurement
519
What happens to the quantity of Lisch nodules as a patient with NF1 ages?
It grows (adult patients may have hundreds). The absence of Lisch nodules in an adult is thought by some to rule out the diagnosis of NF1.
520
How much more common is NF1 than NF2?
approximately 10x
521
How is NF2 diagnosed generally?
By the presence of bilateral acoustic (8th nerve) tumors
522
How does NF2 generally present?
with decreased hearing, tinnitus, or lens opacity (PSC cataract or wedge cortical cataract)
523
What are the two genes involved in Tuberous Sclerosis (TS)?
Hamartin and tuberin (both tumor suppressors)
524
What is the Vogt triad for TS findings?
1) mental retardation, 2) seizures, 3) facial angiofibromas
525
What are the criteria for diagnosis of TS?
Any one of: 1) facial angiofibroma, 2) multiple ungual fibromas, 3) cortical tuber, 4) subependymal nodule, 5) multiple retinal astrocytomas
526
What is the appearance of an "ash leaf spot" of TS?
1) sharply demarcated, 2) ash leaf shape, 3) hypopigmented skin lesion
527
What is a shagreen patch?
Also known as a collagenoma, it is a thickened plaque of skin occurring in 1/4 of TS cases, typically in the lumbosacral area
528
What percent of children with TS experience seizures?
80%
529
What is the usual size of a retinal astrocytic hamartoma in TS?
1/2 to 2x the diameter of the optic disc
530
What are the two common appearances of retinal astrocytomas in TS?
1) flat gray, 2) tapioca cluster, yellowish-white
531
What are the most common findings in von Hippel-Lindau (vHL) disease?
Vascular tumors (hemangioblastomas) of the retina and cerebellum
532
What is the age of onset of vHL disease?
10-35 years (average 25 years)
533
What is the fully developed appearance of a retinal hemangioblastoma?
pink globular mass 1-3 disc diameters in size
534
How do retinal hemangioblastomas lead to vision loss in vHL?
leakage of fluid into the subretinal space, leading to retinal detachment
535
What are the clinical features of Sturge-Weber syndrome (SWS)?
1) facial cutaneous angioma (port-wine stain), 2) ipsilateral leptomeningeal vascular malformation
536
What are the clinical complications of SWS?
1) cerebral calcification, 2) seizures, 3) focal neurologic deficits (hemianopia, hemiparesis), 4) mental deficiency
537
Is SWS genetically transmitted?
No, it is unique among the 4 major phakomatoses in that way
538
Do all children with a port-wine stain have SWS?
No
539
Of what does the port-wine stain of SWS consist?
excessively numerous, dilated, well-formed capillaries in the dermis
540
Are the findings of SWS usually present at birth?
They are actually always present at birth, and are thought to occur very early in development (4-8 wks gestation)
541
What is the most common ocular complication of SWS?
glaucoma, occurring in 70% of patients with SWS
542
What are the ocular findings in ataxia-telangiectasia (AT)?
1) motor abnormalities (inability to initiate saccades), 2) conjunctival telangiectasia
543
What percent of children with AT have conjunctival telangiectasia?
91%
544
What is the earliest ocular feature of AT?
Ocular motility dysfunction
545
What is the inheritance of incontinentia pigmenti (IP)?
X-linked dominant
546
What is the primary ocular finding in IP?
1) proliferative retinal vasculopathy resembling ROP
547
What is the typical ocular lesion of Wyburn-Mason syndrome (racemose angioma)?
Markedly dilated and tortuous vessels acting as AV fistulae while not leaking fluid
548
What is craniosynostosis?
Premature closure of 1 or more cranial sutures during the embryonic period or early childhood
549
A large proportion of the craniosynostosis syndromes are related to mutations in which genes?
The FGFR (1, 2, and 3) and TWIST genes
550
Do patients with Crouzon syndrome generally have normal intelligence?
Yes
551
Do patients with Crouzon syndrome normally have hand or foot abnormalities?
No, unlike many of the other craniosynostosis syndromes.
552
What are the 8 common ocular complications of the craniosynostoses?
1) proptosis, 2) corneal exposure, 3) globe luxation, 4) vision loss, 5) amblyopia, 6) strabismus, 7) optic nerve abnormalities, 8) adnexal anormalities
553
What are the ocular hallmarks of Goldenhar syndrome?
Epibulbar dermoids (usually inferotemporal quadrant, hidden by eyelids) and limbal dermoids. Microphthalmia and eyelid colobomas may also occur.
554
What are the classic ocular characteristics of fetal alcohol syndrome (FAS)?
1) short palpebral fissures, 2) telecanthus, 3) epicanthus, 4) ptosis, 5) microphthalmos, 6) strabismus (esotropia in particular)
555
What is the ratio of males to females presenting with ocular trauma in childhood?
3:1
556
What outranks trauma as a leading reason for ocular surgery in children?
Strabismsus (trauma is #2)
557
What is the most common intracranial finding in shaken baby syndrome?
Subdural hematoma
558
What are the most common ocular manifestations of shaken baby syndrome?
1) Retinal hemorrhage (most common), 2) perimacular folds, 3) retinoschisis cavities
559
What imaging study should be performed in a child if there is any reason to suspect an intraocular or intraorbital foreign body?
CT of the orbits
560
What should be on the DDx for hyphema in infants and children?
1) trauma, 2) retinoblastoma, 3) juvenile xanthogranuloma of the iris, 4) bleeding diathesis from leukemia or other blood dyscrasia
561
Is there universally accepted medical treatment for hyphema in children at present?
No (some advocate steroids, cycloplegics, and/or antifibrinolytics)
562
What type of orbital fracture is rare in adults but common in early childhood?
Orbital roof fractures (usually due to impact to the brow region in a fall)
563
What is the usual presenting sign of an orbital roof fracture in a child?
Hematoma of the upper eyelid
564
When should a blink reflex to bright light be present in a neonate?
within a few days after birth
565
By what age should a baby be able to make and maintain eye contact with other humans?
6 weeks
566
By what age should infants be interested in bright objects?
2-3 months
567
What is sunsetting?
tonic downward deviation of both eyes
568
After what age are disconjugate eye movements, skew deviation, and sunsetting no longer considered normal in infants?
after 4 months
569
What is the oculodigital sign?
An infant habitually pressing on the eye with a finger or fist in an effort to induce a phosphene (perception of light without light actually striking the retina)
