BCSC Peds Flashcards
How many phases of growth of the axial length of the eye occur?
3 phases (1st – 4mm, 0-6mos; 2nd – 1mm, 2-6 yrs; 3rd – 1mm, 5-13 yrs)
What is the normal newborn axial length of the eye?
15-17mm (vs. 23-24mm adult)
What is the normal newborn corneal horizontal diameter?
10mm (vs. 12mm adult)
What is the normal newborn corneal radius of curvature?
6.6mm-7.4mm (vs. 7.4-8.4mm adult)
Is mild corneal clouding normal in newborns?
Yes, and it is expected in premature infants.
What is the central corneal thickenss at birth?
0.96mm (–> 0.52mm at 6 mos)
Does the power of the pediatric lens increase or decrease over the first years of life?
decrease
Are infants hyperopic or myopic at birth?
Hyperopic
What happens to the refractive state of the eye from 0-7 yrs?
Increasing hyperopia
What is emmetropization?
The process of growth of the eye to resopnd to and cancel out refractive error in children in order to reach emmetropia
What are the average palpebral fissure measurements in infants?
18mm wide, 8mm high
Is normal IOP in children higher or lower than in adults?
lower, > 21 is considered abnormal in children
What is the difference in the insertion sites of the of the EOMs relative to the limbus in children vs. adults?
2mm closer to limbus in newborns, 1mm closer at 6 mos, similar to adults at 20 mos
Is vertical gaze fully functional at birth?
no, usually not fully functional until 6 mos
What is the direction of retinal vascularization?
Centrifugal, with the optic disc as the center; does not reach temporal ora serrata until 40 wks
What are the two major methods for quantifying visual acuity in preverbal infants/toddlers?
Preferential looking (PL) and Visually evoked potential (VEP)
What type of visual acuity test is constituted by Teller acuity cards?
Preferential looking
What is the average visual acuity of newborns?
20/600 by preferential looking, 20/400 by VEP
When is 20/20 acuity reached in children?
by 3-5 yrs of age
What is dysraphia?
the failure to fuse (e.g. choroidal coloboma)
What is hypotelorism?
Reduced distance between the medial walls of the orbits. It is associated with over 60 syndromes.
What is hypertelorism?
lateralization of the entire orbit (leading to an increase in both the inner and outer intercanthal distances) It occurs in over 550 disorders.
What is the theoretical cause of hypertelorism?
early ossification of the lesser wing of the sphenoid, which fixes the orbits in the fetal position
What is exorbitism?
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
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)
What is secondary telecanthus?
Telecanthus in the presence of a normal inter-pupillary distance
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
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
What is a common association of eyelid colobmoma?
Goldenhar syndrome
What is a potential complication of eyelid coloboma?
Exposure keratopathy
What is ankyloblepharon?
fusion of part or all of the eyelid margin
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.
Does epiblepharon require surgery?
Usually, it resolves spontaneously in the first few years of life.
What is a congenital tarsal kink?
Bending backward and open of the upper eyelid. The upper tarsal plate often has a 180 degree fold
What is distichiasis?
Partial or complete accessory row of eyelashes growing out of (or slightly posterior to) the meibomian gland orifices
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
What is epicanthus?
a crescent-shaped fold of skin running vertically between the eyelids and overlying the inner canthus
How many types of epicanthus are there?
4 (tarsalis, inversus, palpebralis, supraciliaris)
What is the normal relative positioning of the medial and lateral canthus?
Lateral canthus 1mm higher than medial canthus
What 4 features comprise blepharophimosis syndrome?
1) blepharophimosis, 2) epicanthus inversus, 3) telecanthus, 4) ptosis
What intervention may be needed early in life for children with blepharophimosis syndrome?
Ptosis repair, possibly with frontralis suspension
What is the most common cause of amblyopia in patients with congenital ptosis?
Anisometropic astigmatism
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
What are surgical techniques for ptosis repair in children?
1) levator resection, 2) tucking of levator aponeurosis, 3) frontalis suspension
After what age can tensor fascia lata be harvested for surgical repairs such as frontalis suspension?
after 3 or 4 years of age
How can one test for Marcus Gunn jaw-wink in an infant?
have child suck on a bottle or pacifier
What are 3 ways in which maternal infections can cause ocular damage?
1) direct action, 2) teratogenic effect, 3) delayed reactivation after birth
What does TORCHES stand for?
TOxoplasmosis, Rubella, Cmv, Herpes, Ebv, Syphilis
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
What are the ocular manifestations of congenital toxoplasmosis?
Retinitis, choroiditis, iritis, anterior uveitis.
What is the appearance of congenital toxoplasma retinitis?
Thickened, cream-colored, with overlying vitritis
What is the treatment of toxoplasma retinitis?
Pyrimethamine or sulfadiazine with or without steroids
What are the ocular manifestations of congenital rubella?
nuclear cataract (sometimes with liquefied lens cortex), glaucoma, microphthalmos, retinopathy with pigmentation
What ophthalmic treatment is usually required for congenital rubella?
lensectomy, treatment of inflammation with steroids, mydriatics
What is another term for congenital CMV infection?
cytomegalic inclusion disease
What are the ophthalmic manifestations of congenital CMV?
retinochoroiditis, optic nerve anomalies, microphthalmos, cataract, uveitis
What is the usual appearance of congenital CMV retinochoroiditis?
bilateral involvement consisting of areas of RPE atrophy and whitish opacities mixed with retinal hemorrhages
What are the ophthalmic manifestations in congenital HSV infection?
conjunctivitis, keratitis, retinochoroiditis, cataracts
What is treatment for congenital HSV infection?
systemic acyclovir
What are the ophthalmic manifestations of congenital syphilis?
pigmentary chorioretinitis, anterior uveitis, glaucoma, interstitial keratitis
What is the treatment for congenital syphilis?
Penicillin G, follow-up serologies at 2, 4, 6, and 12 mos
What is the primary ophthalmic manifestation of lymphocytic choriomeningitis (LCMV)?
Chorioretinal scars, similar in appearance to toxoplasmosis scars
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)
Which organism causes the most serious form of ophthalmia neonatorum?
Neiserria gonorrhoeae
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
What is the treatment of gonococcal ophthalmia neonatorum?
systemic ceftriaxone, topical irrigation with saline. Topical antibiotics may be used if there is corneal involvement
What is the onset of neonatal chlamydial conjunctivitis?
1 week of age
What is the clinical presentation of chlamydial ophthalmia neonatorum?
mild swelling, hyperemia, papillary reaction (follicular reaction only after 1 month old), pseudomembrane formation, discharge
What is the treatment of neonatal chlamydial disease?
oral erythromycin 12.5mg/kg QID x 14 days
What prophylaxis can be used for gonococcal and chlamydial ophthalmia neonatorum?
erythromycin ointment/tetracycline ointment/povidone iodine drops
What are the most common causes of bacterial conjunctivitis in school-aged children?
S pneumoniae, Hemophilus, Moraxella
What is Parinaud oculoglandular syndrome (POS)?
unilateral granulomatous conjunctivitis with preauricuar and submandibular adenopathy
What is the most common cause of Parinaud oculoglandular syndrome?
cat-scratch disease
What is the treatment for Parinaud oculoglandular syndrome?
Usually supportive, as it is self-limited
What is treatment for trachoma in a child?
topical or systemic sulfa, erythromycin, or tetracycline
What is epidemic keratoconjunctivitis?
An acute follicular conjunctivitis, usually unilateral at onset with preauricular lymphadenopathy; usually occurs in epidemic outbreaks and is highly contagious
For how long after infection should children with EKC be kept out of school?
2 weeks
Is treatment indicated for purely conjunctival HSV infection?
No. Involvement of the cornea would prompt treatment, however.
What are the ophthalmic manifestations of primary VZV infection?
Usually mild, self-limited. Include conjunctival vesicles, ulcerations, internal ophthalmoplegia
What are the ophthalmic manifestations of EBV infection?
conjunctivitis with nummular keratitis
What is the treatment for EBV ophthalmic manifestations?
supportive, including cool compresses
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)
What is preseptal cellulitis?
an inflammatory process involving the tissues anterior to the orbital septum. It may be acompanied by eyelid edmea
How can preseptal cellulitis be differentiated from orbital cellulitis clinically?
No proptosis, absence of pain on eye movement indicate pre-septal
What are the 3 mechanisms for development of preseptal cellulitis?
1) posttraumatic, 2) secondary to severe conjunctivitis, 3) secondary to URI or sinus infection
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
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
What is the most common cause of bacterial orbital cellulitis?
Paranasal sinusitis
Which sinus is most commonly involved in cases of orbital cellulitis in children under 10?
ethmoid sinus
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
What is maxillary osteomyelitis?
infection spreading from nose into the tooth buds, presenting with unilateral erythema and edema of the lids, cheek and nose
What is mucormycosis?
A fungal infection of the orbit occurring most frequently in patients with ketoacidosis or severe immunosuppression
What is the treatment for mucormycosis?
debridement of necrotic and infective tissue and administration of amphotericin
What are the 3 main types of ocular allergic reactions?
1) seasonal allergic conjunctivitis, 2) vernal keratoconjunctivitis, 3) atopic keratoconjunctivitis
When does seasonal allergic conjunctivitis occur?
Spring and fall
What topical medications exist for ocular allergy?
mast-cell stabilizers (cromolyn, lodoxomide), H1-receptor blockers (naphazoline), vasoconstrictors naphazoline/pheniramine), NSAIDs (ketorolac), steroids
What are the two forms of VKC?
palpebral and bulbar, depending on which conjunctival surface is most affected
Which lid is usually affected in palpebral VKC?
upper eyelid
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
Is the lower lid usually involved in AKC?
Yes, unlike VKC
What is Stevens-Johnson Syndrome?
an acute inflammatory polymorphic disease affecting skin and mucous membranes.
What are the ocular manifestations of SJS?
mucopurulent conjunctivitis, corneal ulcers, vascularization, perforation; symblepharon
What is the pathogenesis of SJS?
Angiitis , leading to erythematous lesions that become edematous or bullous
What organism usually causes secondary infection in SJS?
Staph
What can be used to prevent symblepharon in a patient with SJS?
a symblepharon ring or a glass rod for symblepharon lysis
What are the ocular manifestations of Kawasaki disease?
anterior uveitis, possible conjunctival scarring and retinal ischemia
What should tearing in an infant prompt evaluation for other than lacrimal obstruction?
congenital/infantile glaucoma
What is atresia of the lacrimal puncta or canaliculi?
Failure to canalize of the punca or canaliculi, resulting in epiphora
Do supernumary puncta require treatment?
No
What is a congenital lacrimal fistula?
an epithelial-lined tract extending from the common canaliculus to the overlying skin surface
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
How does dacryocele present?
as a bluish swelling just below and nasal to the medial canthus
What is a common association of dacryocele?
nasal mucocele (bulging of mucosa at the lower end of the NLD into the nasal cavity)
What is the incidence of NLD obstruction in infants who were born full-term?
5%
What is the usual cause of NLD obstruction?
a thin mucosal membrane at the lower end of the NLD
What is the time of onset of symptoms in NLD?
1 month of life
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
What percent of patients with NLD obstruction have spontaneous resolution by 1 year of age?
70%
When is the appropriate time to perform NLD probing in an infant for obstruction?
Unclear. Some argue for 1 year, others argue for earlier.
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
When is infracture of the inferior turbinate performed?
Usually only performed if there is firm resistance to the NLD probe
When is intbuation of the lacrimal system usually performed for NLD obstruction?
Usually after 1 or more simple probings or balloon dilations have failed
At what age is the adult corneal diameter reached?
2 years of age
What is the lower limit of corneal diameter for megalocornea?
13mm
What is the inheritance of megalocornea?
usually X-linked; 90% of patients with megalocornea are male
In which form of Ehlers-Danlos syndrome is keratoglobus known to occur?
Ehlers-Danlos Type VI
What are common associations of keratoconus?
Down syndrome, topic disease, chronic eye rubbing
What is the definition of microcornea?
Corneal diameter < 9mm in newborn, < 10mm after 2 years of age
What are common associations of microcornea?
oculodentodigital dysplasia syndrome, cataracts, colobomas, high myopia, PFV
What is posterior embryotoxon?
A prominent Schwalbe line due to central thickening and displacement of Schwalbe line
What syndromes are commonly associated with posterior embryotoxon?
1) Axenfeld-Rieger syndrome, 2) Alagille syndrome, 3) velocardiofacial syndrome
What is Schwalbe line?
The posterior termination of Descemet membrane
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
What are common iris defects seen in Axenfeld-Reiger syndrome?
smooth cryptless iris surface, high iris insertion, iris transillumination
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
What are the primary congenital central corneal opacities?
CHED, CHSD, Dermoid
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
What is Peters anomaly?
A posterior corneal defect with overlying stromal opacity, often accompanied by adherent iris strands (it is usually not subtle)
Is bilateral or unilateral Peters anomaly more likely to be associated with a syndrome?
Bilateral. Warrants complete genetic and systemic workup when bilateral.
What is sclerocornea?
a congenital disorder in which the cornea is opaque and resembles the sclera, making the limbus indistinct.
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
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
What is a corneal dermoid?
a choristoma composed of fibrofatty tissue covered by keratinized epithelium
Where are most dermoids found?
the inferotemporal limbus
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
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)
Where does cystinosis have the highest incidence?
French-speaking Canada
What are the ocular findings of cystinosis?
Iridescent elongated corneal crystals, appearing at 1 year. They are also found in the iris.
What is a Kayser-Fleischer ring?
The characteristic copper-colored ring limited to Descemet membrane seen in Wilson disease (due to excess copper deposition)
What are the ocular manifestations of familial dysautonomia?
Impaired lacrimation and decreased corneal sensitivity, leading to exposure keratitis, corneal ulcers, and secondary opacification
What is dyscoria?
An abnormality of the shape of the pupil due to a congenital malformation
How is the term aniridia a misnomer?
In aniridia, at least a rudimentary pupil is always present
In addition to dyscoria, what is seen in aniridia?
foveal hypoplasia, cataracts, and corneal opacification
What percentage of aniridic children have affected parents?
66%
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)
Sporadic aniridia and Wilms tumor can be part of what complex?
WAGR (Wilms tumor, Aniridia, Genitourinary malformations, mental Retardation)
What is the “typical” cause of iris coloboma?
Failure of the embryonic fissure to close in the fifth week of gestation
What is the appearance of a “typical” iris coloboma?
A keyhole
What are Lisch nodules?
Melanocytic hamartomas of the iris commonly associated with NF1
What is juvenile xanthogranuloma?
A cutaneous disorder that can include vascular iris lesions appearing as yellowish or reddish nodules or causing heterochromia
What are iris mamillations?
Diffuse, tiny pigmented nodules seen on the surface of the iris (usually the same color)
What type of drug can cause central pupillary cysts?
Topical cholinesterase-inhibiting drops, such as phospholine iodide
What are Brushfield spots?
focal areas of iris stromal hyperplasia surrounded by relative hypoplasia. They occur in 90% of patients with Down syndrome.
Hypopigmented heterochromia in a child should prompt workup for what?
Horner syndrome
What is the most common developmental abnormality of the iris?
Persistent pupillary membranes (present in 95% of newborns, resolve on their own generally)
What are potential causes of congenital miosis?
1) absence or malformation of the pupil dilator muscle, 2) contracture from remnants of tunica vasculosa lentis
What are syndromic associations of congenital miosis?
1) congenital rubella, 2) hereditary ataxia, 3) Lowe oculocerebrorenal syndrome
What is a potential cause of Adie pupil in children?
VZV
What are potential causes of Horner syndome in children?
trauma, surgery, presence of neuroblastoma affecting the sympathetic chain in the chest
What is corectopia?
displacement of the pupil
What is ectopia lentis et pupillae?
Combination of lens subluxation and corectopia. Usually bilateral. Lens and pupil usually displaced in opposite directions
What is ectropion uveae?
Ectropion of the posterior pigment epithelium onto the anterior surface of the iris
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.
With what syndromes is congenital iris ectropion syndrome associated?
NF, facial hemihypertrophy, Prader-Willi
What is the inheritance of primary congenital glaucoma (PCG)?
It is actually usually sporadic, but may be inherited in an autosomal recessive manner
What is the incidence of primary congenital glaucoma?
1 in 2500 to 1 in 22,000
In what percentage of patients is primary congenital glaucoma bilateral?
66%
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.
Where is the site of obstruction thought to be in primary congenital glaucoma?
In the TM
What is the classic clinical triad of primary congenital glaucoma (PCG)?
1) epiphora, 2) photophobia, 3) blepharospasm
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)
What refractive errors are susually seen in patients with PCG?
myopia and astigmatism from eye enlargement and corneal irregularity
What anterior chamber finding is common in PCG?
abnormally deep anterior chamber
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
Where is the iris insertion in PCG relative to normal?
The iris insertion is more anterior than in the normal angle
What is the cup to disc ratio usually seen in PCG?
> 0.3
Can reversal of optic nerve cupping occur after IOP lowering surgery in children?
Yes
What is buphthalmos?
The pseudoproptosis and “ox eye” appearance of an eye with PCG
What manifestation of Sturge-Weber syndrome is associated with glaucoma?
Port-wine stain (nevus flammeus) of both the upper and lower eyelids
Which disorders can lead to lens-associated secondary glaucomas?
Marfan, homocystinuria, Weill-Marchesani, microspherophakia
When does aphakic glaucoma usually develop in children?
Years after lens removal in children
With regard to treatment, what are the two forms of glaucoma considered in children?
1) PCG, 2) everything else
What is the treatment of choice for PCG?
Angle surgery: goniotomy or trabeculotomy (2nd line: trabeculectomy; 3rd line: cycloablation
What is involved in goniotomy?
an incision is made under direct gonioscopic visualization across the TM
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
What percent of infants with PCT have successfully controlled IOP after 1 or 2 angle surgeries?
80%
What is cyclocryotherapy?
A form of cycloablation involving freezing the ciliary processes through the sclera
What is Transscleral laser cycloablation?
usage of the Nd:YAG or diode laser to ablate the ciliary processes
What is endoscopic cyclophotocoagulation?
Use of a microendoscope to apply laser energy to the ciliary processes under direct visualization
What is the treatment modality of choice for infants with glaucoma that is not PCG?
medical therapy
Which drug classes for IOP reduction are generally not used in children?
adrenergic agents and miotics
What percent of children presenting with PCG at birth become legally blind?
50% (visual prognosis is better in patients presenting from 3-12 mos)
What percent of children presenting with PCG at 3-12 mos can have their IOP controlled with angle surgery?
80-90%
What is the incidence of lens abnormalities in infants?
6/10,000
What are the inheritance patterns of hereditary cataracts?
Usually autosomal dominant. Occasionally X-linked and autosomal recessive.
Are hereditary cataracts usually unilateral or bilateral?
Always bilateral, but can be asymmetric
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
Are infantile eyes with nuclear cataracts usually larger or smaller than normal?
Smaller (with increased risk of developing glaucoma later in childhood)
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)
By what age is the fixation reflex established?
2-3 months
What is posterior lenticonus?
A thinning of the central posterior capsule, initially creating an “oil droplet” appearance on red reflex examination
How long does opacification of a posterior lenticonus outpouching take?
can take years
In which phakomatosis are PSC cataracts seen?
NF2
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
Is PFV usually unilateral or bilateral?
unilateral almost always
Are eyes with PFV usually larger or smaller than normal?
Eyes with PFV are almost always microphthalmic
When should a unilateral congenital cataract be removed for optimal visual development in infants?
Before 6 weeks of age
When should bilateral congenital cataracts be removed for optimal visual development in infants?
Before 10 weeks of age
Beyond what age is IOL implantation (in the setting of cataract surgery) considered reasonable?
beyond 1-2 years of age
Is the elasticity of the lens capsule higher or lower in infants than adults?
Higher in infants
Is phacoemulsification needed to remove lens material in a child?
No, it can usually be readily aspirated
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
At what age can a Nd:YAG capsulotomy be performed without anesthesia?
5-6 years
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
Is closure of clear corneal incisions in children safe?
Yes, and astigmatically neutral when performed with 10-0 absorbable suture
If a posterior approach is desired for posterior capsulectomy, where can the incision be made?
In the pars plana
IOLs made of what materials are used in children?
PMMA and acrylic
Are highly asymmetric spectacle lenses amblyogenic?
Yes
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
What is a common association of of spherophakia?
ectopia lentis leading to secondary glaucoma
What is a lens coloboma?
flattening or notching of the lens periphery (not technically a coloboma, but referred to as one anyway)
Are zonular fibers usually present in a “colobomatous” region of a lens?
No, zonular fibers are usually absent in the “colobomatous” region
What is a luxed lens?
One that is completely detached from the ciliary body
What are the clinical manifestations of ecoptia lentis et pupillae other than ectopia lentis and corectopia?
microspherophakia, miosis, poor pupillary dilation with mydriatics
Which systemic disease is seen most often in patients with ectopia lentis?
Marfan syndrome
In which direction is the lens usually dislocated in Marfan syndrome?
upward (in 75% of cases)
Are the zonules broken in Marfan syndrome with ectopia lentis?
No, unlike homocystinuria, in which the zonular fibers are broken with ectopia lentis
Are patients with Marfan syndrome usually myopic or hyperopic?
Myopic (increased axial length)
In what direction is the lens usually dislocated in homocystinuria with ectopia lentis?
downward, but it is not diagnostic
How is homocystinuria diagnosed?
detection of disulfides in the urine
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.
What is the usual ocular manifestation in Weill-Marchesani syndrome?
Microspherophakia, with eventual anterior dislocation of the lens and pupillary block glaucoma
What is the ocular manifestation of sulfite oxidase deficiency?
Ectopia lentis
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
Under what name are all idiopathic childhood arthritides included?
Juvenile Idiopathic Arthritis (JIA)
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
Which subtypes of JIA are important causes of uveitis in children?
1) Oligo, 2) Poly (RF-neg), 3) Psoriatic, 4) Enthesitis-related
What is the most frequent type of chronic arthritis in children in North America?
Oligoarthritis
What types of uveitis are most likely to occur in oligoarthritis?
Anterior uveitis and iritis
In what percent of children with RF-negative polyarthritis does uveitis develop?
10%
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)
Is JIA-associated uveitis usually bilateral or unilateral?
bilateral (although the enthesitis-related arthritis subtype usually presents with unilateral uveitis)
Is JIA-associated uveitis usually granulomatous or non-granulomatous?
non-granulomatous
What type of keratic precipitates are seen in JIA-associated uveitis?
Fine to medium-sized KPs
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
Is uveitis seen in Tubulointerstitial Nephritis and Uveitis syndrome usually bilateral or unilateral?
Bilateral
Can pediatric orbital pseudotumor cause an anterior uveitis?
Yes
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
What percentage of pediatric uveitis is intermediate uveitis?
25%
What is the most common cause of posterior uveitis in children?
Toxoplasmosis
What are common ocular manifestations of ocular toxocariasis?
1) posterior pole granuloma with macular traction, 2) endophthalmitis, 3) leukocoria, 4) strabismus, 5) decreased vision
Is the incidence of lung disease in sarcoidosis higher or lower in children than adults?
lower in children
What is the most common ocular manifestation of sarcoidosis in children?
Anterior uveitis, although posterior uveitis may also occur
Which diseases are in the differential for Familial Juvenile Systemic Granulomatosis?
JIA and sarcoidosis
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.
What are the causes of panuveitis in children?
Sarcoidosis, Familial Juvenile Systemic Granulomatosis, VKH, Bechet syndrome, and several infectious diseases
Can AC flare (protein) persist after inflammation has been successfully treated and AC cell has resolved?
Yes
For how long after an injection can periocular steroids produce an elevation in IOP?
weeks to months
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
Which 2 NSAIDs used to treat arthritides in children can also be effective in treating uveitis?
Naproxen and tolmetin
What is the most commonly used antimetabolite in treating children with arthritis and uveitis?
Methotrexate
Are alkylating agents commonly used in treating children with uveitis?
No, they have many serious adverse effects in children
How can band keratopathy be treated?
Debridement of corneal epithelium followed by chelation with EDTA
What is the most common cause of a unilateral cataract in children?
Persistent Fetal Vasculature (PFV)
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
What are the keys to treatment of eyes with PFV?
Early cataract surgery and retrolental membrane excision
When does retinal vascular development begin?
week 16 of gestation
What is the source of retinal vessels?
Mesenchymal tissue containing spindle cells
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)
What percent of infants weighing less than 1251g at birth develop ROP?
68%
How are gestational age at birth and birth weight correlated with the likelihood of development of ROP?
Inversely correlated
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
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
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
How is “Extent” described in the ICROP classification of ROP?
Number of clock hours
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
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
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”
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
Is the macula part of Zone I, per the ICROP definitions?
Yes
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 (+)
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 )
When should the first examination for ROP be performed?
4-5 weeks after birth or 30-31 weeks gestational age, whichever is later
What mydriatic agent is recommended for ROP examination of infants?
Cyclomydril (0.2% cyclopentolate and 1.0% phenylephrine)
How often should follow-up ROP exams be performed after the first exam?
Every 1-2 weeks
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 )
What results was achieved by applying cryotherapy for ROP in patients with threshold disease?
50% reduction in retinal detachment compared to observation
Which is more severe, Prethreshold Type I disease or Type II?
Prethreshold Type I disease is worse than Type II (arguably unintuitive)
What did the ETROP study demonstrate?
That treatment at Prethreshold Type I or Threshold resulted in better outcomes than waiting until Threshold to treat
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
Is myopia a common sequela of ROP?
Yes
How does pseudostrabismus result from ROP?
Dragging of the macula can occur in ROP, which may give the appearance of an exotropia
What are the classic findings of Coats disease?
Yellow subretinal and intraretinal lipid exudates associated with retinal vascular abnormalities (telangiectasia, tortuosity, aneurysms, avascularity)
What is a common consequence of Coats disease that results in poor visual prognosis?
retinal detachment including the fovea, with organization of subretinal exudate
What is the average age at diagnosis of Coats disease?
6-8 years old
How can progression of Coats disease be stopped?
Destruction of leaking vessels (usually with laser photocoagulation or cryotherapy)
When is the usual onset of nystagmus in a child with hereditary retinal disease?
8-12 weeks old
What tests are available for evaluation of retinal disease in school-aged children?
ERG, EOG, color vision testing, visual fields, dark adaptation testing
What are the clinical characteristics of Leber Congenital Amaurosis (LCA)?
severe vision loss in infancy, nystagmus, poorly reactive pupils, extinguished ERG
What is the DDx for LCA?
achromatopsia, congenital stationary night blindness, albinism, optic nerve hypoplasia
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
What is hemeralopia?
The inability to see clearly in bright light
What are the findings in complete achromatopsia (also called rod monochromatism)?
no color vision, poor central vision, nystagmus, photophobia
What is the inheritance of the most common form of Congenital Stationary Night Blindness?
X-linked recessive
What is the ophthalmoscopic appearance of foveal hypoplasia?
Decreased or absent foveal reflex
What are the two most common hereditary macular disorders?
Stargardt disease (juvenile macular degeneration) and Best disease (juvenile-onset vitelliform macular dystrophy)
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
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.
What is fundus flavimaculatus?
A term used to describe a fundus with pisciform yellow flecks throughout at the level of the RPE
What is the inheritance of Best disease?
Autosomal dominant
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
Best disease is caused by mutations in which gene?
VMD2 gene, also called bestrophin, on chromosome 11
What is the inheritance of Juvenile Retinoschisis?
X-linked recessive
Where does retinoschisis occur in Juvenile Retinoschisis?
in the NFL
What is the appearance of the fovea in juvenile retinoschisis?
star-shaped or spokelike
Juvenile retinoschisis is caused by mutation of which gene?
RS1
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.
Which types of Stickler syndrome demonstrate ocular features?
1, 2, and 4 (4 demonstrates only ocular features)
What are the ocular features of Familial exudative vitreoretinopathy (FEVR)?
retinal traction, folds, breaks, detachment, avascular peripheral retina, and retinal and subretinal exudates
What is the DDx of FEVR?
ROP and Coats disease
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.
What is the inheritance of Norrie disease?
X-linked recessive
What are the clinical features of Goldmann-Favre Vitreoretinal Dystrophy?
Vitreous strands and veils in addition to foveal and peripheral retinoschisis
What refractive change can result from a sudden increase in blood glucose?
Myopic shift
What refractive change can result from a sudden decrease in blood glucose?
Hyperopic shift
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.
What are the most common eye findings in leukemia in children?
Retinal hemorrhages. In particular, flame shaped hemorrhages occurring in the NFL.
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.
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
What are the two forms of albinism involving the eye?
Oculocutaneous albinism (OCA) and ocular albinism (OA)
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.
Which two syndromes can include albinism?
Hermansky-Pudlak and Chediak-Higashi
About what should all patients with albinism be counseled?
Risk of skin cancer
What is the most common eye defect in Lowe syndrome?
congenital bilateral cataracts
What lens finding can female carriers of Lowe syndrome demonstrate?
Punctate snowflake opacities oriented in a radial fashion within the lens cortex
What are the ophthalmic manifestations of Alport syndrome?
1) cataract, 2) anterior lenticonus, 3) fleck retinopathy
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).
What type of disorder is associated with a “cherry red spot” finding?
Neurometabolic disorders
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.
Which disease is the most common of the gangliosidoses?
GM2 type I gangliosidosis (Tay-Sachs disease)
At what age is vision decreased in Tay-Sachs disease?
12-18 months
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
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
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
What workups should be performed in patients with MGD?
MRI and MRA to check for associated abnormalities of the carotid circulation (including moyamoya disease)
What does mild optic disc coloboma resemble?
Deep cupping of the optic nerve. May be confused with glaucomatous damage.
Where are retinal ganglion cell axons myelinated normally?
From LGN to lamina cribrosa. NOT in the retina.
What is the visual field result of myelination of nerve fibers in the RNFL?
absolute scotomata corresponding to the myelinated areas
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
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.
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
What is the common refractive error seen in patients with Tilted Disc Syndrome (TDS)?
Myopic astigmatism
Tilted Discs combined with myopic astigmatism, decreased vision, and poor night vision indicate what syndrome?
X-linked CSNB
What is megalopapilla?
an abnormally large optic disc diameter, often associated with an increased cup-disc ratio
What is optic nerve hypoplasia (ONH)?
decreased number of axons in the optic nerve
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.
Cerebral hemisphere abnormalities occur in what percentage of patients with ONH?
45%
What percent of patients with ONH have pituitary abnormalities?
15%
What maternal ingestions are associated with ONH?
1) phenytoin, 2) quinine, 3) LSD, 4) alcohol
Where do optic nerve pits usually occur?
Inferotemporal quadrant or central portion of disc
What is peripapillary staphyloma?
posterior bulging of the sclera in which the optic disc occupies the “bottom of the bowl”
What is the age of onset of dominant optic atrophy?
Before 10 years of age
What is the color vision deficit in dominant optic atrophy?
tritan dyschromatopsia
Is external ophthalmoplegia associated with Behr Optic Atrophy?
Yes
What is the inheritance of Leber Hereditary Optic Neuropathy (LHON)?
Maternal (mitochondrial)
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
What is the age of onset of LHON?
10s to 30s
Is LHON seen in predominantly males or females?
males
What cardiac arrhythmia is associated with LHON?
Wolff-Parkinson-White syndrome
Mutation in what is responsible for LHON?
Complex I (NADH: ubiquinone oxidoreductase)
Is optic neuritis in children more or less often bilateral than in adults?
more often bilateral in children
Is there an agreed upon treatment for optic neuritis in children?
No, steroids are controversial for optic neuritis in children
What findings are indicated by the term neuroretinitis?
Inflammatory disc edema associated with macular star formation
What are common etiologies of neuroretinitis in children?
1) Cat-scratch disease, 2) Mumps, 3) Toxocara, 4) TB, 5) Syphilis
How can intracranial pressure be assessed in infants clinically, without the use of an ophthalmoscope?
Assessment of the open fontanelles for distention and firmness
Is there a gender predominance of IIH in prepubescent children?
No, only female predominance in post-pubescent children and adults
What medical treatments are available for IIH?
Acetazolamide and topiramate
What are common etiologies of pseudopapilledema in children?
1) Optic disc drusen, 2) hyperopia, 3) prominent glial tissue
Children with which two conditions have a higher incidence of optic disc drusen than the general population?
1) Pseudoxanthoma elasticum, 2) Retinitis pigmentosa
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
Where is the null point of nystagmus usually located?
the gaze opposite the fast-phase direction (Alexander’s law)
What is the null point of nystagmus?
The gaze location where the nystagmus is minimal (typically seen in jerk nystagmus).
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.
What are the characteristics of congenital motor nystagmus?
1) Binocular, 2) conjugate, 3) horizontal
Is oscillopsia common in congenital motor nystagmus?
No, it is rare.
Does convergence dampen congenital motor nystagmus?
Yes.
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)
What percent of patients with CMN exhibit paradoxical inversion of the OKN response?
67%
What is the cause of congenital sensory nystagmus?
bilateral, pregeniculate, afferent visual pathway abnormality
What is the typical orientation of congenital sensory nystagmus?
Horizontal
With what congenital disorder is congenital Periodic Alternating Nystagmus (PAN) associated?
oculocutaneous albinism
What does latent nystagmus indicate?
maldevelopment of fusion
What are the characteristics of latent nystagmus?
conjugate, horizontal, jerk
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
Where is the null point in latent nystagmus?
With the fixating eye held in adduction
What increases latent nystagmus?
disruption of fusion
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)
What is spasmus nutans?
an acquired nystagmus presenting by age 2 years as a triad of 1) nystagmus, 2) head nodding, and 3) torticollis
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
What is the intracranial tumor most commonly associated with see-saw nystagmus in children?
Craniopharyngioma
Where is the lesion causing see-saw nystagmus usually found?
rostral midbrain or suprasellar area
What are the two common causes of convergence-retraction nystagmus in children?
1) congenital aqueductal stenosis, 2) pinealoma
Is opsoclonus a true nystagmus?
No, it does not have a slow phase.
What is opsoclonus?
a very high frequency, low-amplitude movement of the eyes
What are the three common causes of opsoclonus in children?
1) postinfectious cerebellar ataxia, 2) epidemic viral encephalitis, 3) paraneoplastic manifestation of occult neuroblastoma
What is a common cause of acquired downbeat nystagmus in children?
Arnold-Chiari malformation
What is dissociated nystagmus?
nystagmus only in the abducting eye
What is are the usual characteristics of a monocular nystagmus?
pendular oscillation, vertical, low irregular frequency, low amplitude
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)
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
What does muscle surgery for nystagmus-induced head turn attempt to do?
shift the null point closer to primary position
What is the name given to the bilateral recession-resection procedure used to treat nystagmus-induced head turn?
Kestenbaum-Anderson procedure
In which direction is a head turn in conjugate horizontal nystagmus?
In the same direction as the fast phase of the nystagmus
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
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
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
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
Do sarcomas form the majority of primary malignant orbital tumors in children?
Yes
What is the most common primary pediatric orbital malignant tumor?
Rhabdomyosarcoma
Should primary diagnosis of rhabdomyosarcoma be made with FNAB?
No
What are the most common histopathologic types of rhabdomyosarcoma in decreasing order of frequency?
1) embryonal, 2) alveolar, 3) botryoid
What is the 5-year survival of patients with primary orbital embryonal type rhabdomyosarcoma?
94%
What is the most common site of ocular metastasis and children?
The orbit
What is the mean age at diagnosis of patients with orbital neuroblastoma metastasis?
2 years
What percent of patients with neuroblastoma show clinical evidence of orbital involvement?
20%
What type of eye movement is a characteristic paraneoplastic finding associated with neuroblastoma?
Opsoclonus
What is the second most common form of orbital metastasis and children?
Ewing sarcoma
What is the most common malignant disease of childhood?
Leukemia
What percent of cases of childhood leukemia are acute?
95%
Is lymphoma likely to involve the orbit and children?
No
The old terms cavernous hemangioma, port-wine stain, and lymphangioma should all be called what under new nomenclature?
Vascular malformations
The old terms capillary hemangioma and strawberry hemangioma should now be referred to as what?
Simply, “hemangioma”
What are hemangiomas?
Hamartomatous growths composed of proliferating capillary endothelial cells
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)
What is the incidence of hemangioma in newborns?
1% to 3%
What complications may occur during the rapid growth phase of the hemangioma?
Ulceration, hemorrhage, astigmatism, amblyopia
When do hemangiomas usually tend to begin to regress?
After one year of life
What are they eye abnormalities associated with PHACE(S) syndrome?
hemangiomas, increased retinal vascularity, microphthalmia, ONH, exophthalmos, strabismus, colobomas, cataracts, and glaucoma
Infants with more than how many visible hemangiomas should be evaluated for visceral hemangiomas?
more than 3 cutaneous lesions
What routes of administration can be used with steroid treatment for hemangiomas in children?
Topical, Intralesional, Systemic
What dosing of propranolol has been shown to induce involution of most hemangiomas?
0.5 to 2mg/kg/day in 3 divided oral doses
Which topical beta blocker has shown efficacy as a topical treatment for hemangiomas?
timolol maleate
What are vascular malformations?
developmental anomalies that can be derived from capillary, venous, arterial, or lymphatic vessels
Do vascular malformations exhibit significant growth?
no, they are relatively static, especially when compared to hemangiomas
What is another term for Sturge-Weber syndrome?
Encephalotrigeminal angiomatosis
What is the technical term for a port wine stain (nevus flaemmus)?
A capillary malformation
Is glaucoma a complication of Sturge-Weber syndrome?
Yes, and it can be difficult to treat in Sturge-Weber syndrome
What percentage of optic pathway gliomas are associated with NF1?
20%
What is meant by the term choristoma?
A growth consisting of normal cells and tissues appearaing at an abnormal location
What is the most common space occupying orbital lesion of childhood?
Dermoid cyst
What is a teratoma?
A choristomatous tumor containing multiple tissues derived from all 3 germinal layers
Are orbital teratomas usually malignant in children?
No, unlike teratomas found at other locations
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
What are common features of orbital myositis?
Diplopia, conjunctival chemosis, orbital pain
What is the usual natural history of papillomas in children?
They are usually caused by a viral infection and tend to disappear spontaneously.
Can oral cimetidine be used to treat papillomas in children?
Yes
Are dermoid tumors and dermoid cysts related?
No, they are completely different entities
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
Is there urgency to remove a limbal dermoid tumor?
No, unless irritation signficant or amblyopia is present
Are PAM or malignant melanoma of the conjunctiva common in childhood?
No, both are extremely rare in childhood
What is the difference between chalazia and hordeola?
Chalazia arise from blocked meibomian glands, while hordeola arise from blocked eccrine and apocrine glands
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
What is juvenile xanthogranuloma (JXG)?
a nonneoplastic histiocytic proliferation involving Touton giant cells that develops in infants < 2 years old
What is the treatment usually required for a medulloepithelioma (diktyoma) of the ciliary body?
Enucleation
What is the appearance of CHRPE?
1) sharply demarcated, 2) flat, 3) hyperpigmented, 4) isolated, multifocal, or grouped (bear tracks)
What condition is strongly associated with CHRPE?
Familial adenomatous polyposis (FAP)
What is Gardner syndrome?
a phenotypic variant of FAP
What is the most common malignant ocular tumor of childhood?
retinoblastoma
What is the incidence of retinoblastoma?
1 in 15,000
What is the most common initial sign of retinoblastoma?
leukocoria
Can spontaneous regression of retinoblastoma occur?
Yes, resulting in the development of a benign retinocytoma or phthisis bulbi
Why is MRI preferred over CT for evaluation of retinoblastoma?
Retinoblastoma patients have high risk of secondary tumors
For what does the RB1 gene code?
a tumor suppressor protein called pRB
Should a surgeon performing enucleation for retinoblastoma obtain a long segment of optic nerve?
Yes
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)
What is the most common retinal lesion simulating retinoblastoma?
Coats disease
What is a distinction that helps identify retinoblastoma on multiple imaging modalities among the many potential causes of leukocoria?
presence of calcium
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
What is the likelihood of a patient with a unifocal retinoblastoma tumor in one eye developing retinoblastoma in the fellow eye?
20%
What is another term for phakomatosis?
Neurocutaneous syndrome
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.
What histopathologic classification is usually given to the lesions of the phakomatoses?
Hamartoma
What is another name for von Hippel-Lindau disease?
Angiomatosis of the retina and cerebellum
What is another name for Sturge-Weber syndrome?
encephalofacial or encephalotrigeminal angiomatosis
What are the four major phakomatoses?
1) Neurofibromatosis, 2) Tuberous Sclerosis, 3) von Hippel Lindau, 3) Sturge-Weber
From what origin do melanocytes and neuroglial cells both derive?
neural crest mesenchyme
What is the penetrance of NF1?
Nearly 100%
What is the inheritance of NF1 and NF2?
Autosomal dominant for both
On which chromosomes are the NF1 and NF2 genes found?
17 and 22, respectively
For what does the NF1 gene code?
neurofibromin, which is involved in regulation of cellular proliferation and tumor suppression
Which form of NF is more common?
NF1 by far, with prevalence of 1/3000
How many criteria out of the 7 for diagnosis of NF1 are required for diagnosis?
only 2 of 7
What is the apperance of cafe-au-lait spots?
1) flat, 2) sharply demarcated, 3) uniformly hyperpigmented macules, 4) varying shape and size
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
What are Lisch nodules?
1) small (<1mm), 2) melanocytic, 3) sharply demarcated, 4) dome-shaped excrescences of the iris
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
What are the two primary types of neurofibromas in NF1?
1) Nodular neurofibromas (more common), 2) Plexiform neurofibromas (more clinically significant)
What percent of plexiform neurofibromas involve the face?
10% (often the upper eyelid and orbit)
What characteristic configuration of the upper eyelid is seen with presence of a plexiform neurofibroma?
S-shaped configuration. Eyelid looks too big for eye.
What are complications of a plexiform neurofibroma involving the upper eyelid?
Ptosis –> amblyopia, conjunctival irritation, glaucoma (50%)
Can plexiform neurofibromas undergo malignant change?
Yes, but rarely do.
Is full surgical excision of a plexiform neurofibroma involving the eyelid usually possible?
No, it is generally not possible.
What histologic characterization do optic pathway gliomas of NF1 generally have?
low-grade pilocytic astrocytoma
What percent of patients with NF1 have an optic pathway glioma?
15% (1%-5% have symptomatic optic pathway gliomas)
When do symptomatic optic pathway gliomas in NF1 usually present?
Before the patient is 10 years old
What are possible complications of optic pathway glioma?
1) vision loss, 2) hydrocephalus, 3) hypothalmic dysfunction, 4) pituitary dysfunction, 5) death
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
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
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.
How much more common is NF1 than NF2?
approximately 10x
How is NF2 diagnosed generally?
By the presence of bilateral acoustic (8th nerve) tumors
How does NF2 generally present?
with decreased hearing, tinnitus, or lens opacity (PSC cataract or wedge cortical cataract)
What are the two genes involved in Tuberous Sclerosis (TS)?
Hamartin and tuberin (both tumor suppressors)
What is the Vogt triad for TS findings?
1) mental retardation, 2) seizures, 3) facial angiofibromas
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
What is the appearance of an “ash leaf spot” of TS?
1) sharply demarcated, 2) ash leaf shape, 3) hypopigmented skin lesion
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
What percent of children with TS experience seizures?
80%
What is the usual size of a retinal astrocytic hamartoma in TS?
1/2 to 2x the diameter of the optic disc
What are the two common appearances of retinal astrocytomas in TS?
1) flat gray, 2) tapioca cluster, yellowish-white
What are the most common findings in von Hippel-Lindau (vHL) disease?
Vascular tumors (hemangioblastomas) of the retina and cerebellum
What is the age of onset of vHL disease?
10-35 years (average 25 years)
What is the fully developed appearance of a retinal hemangioblastoma?
pink globular mass 1-3 disc diameters in size
How do retinal hemangioblastomas lead to vision loss in vHL?
leakage of fluid into the subretinal space, leading to retinal detachment
What are the clinical features of Sturge-Weber syndrome (SWS)?
1) facial cutaneous angioma (port-wine stain), 2) ipsilateral leptomeningeal vascular malformation
What are the clinical complications of SWS?
1) cerebral calcification, 2) seizures, 3) focal neurologic deficits (hemianopia, hemiparesis), 4) mental deficiency
Is SWS genetically transmitted?
No, it is unique among the 4 major phakomatoses in that way
Do all children with a port-wine stain have SWS?
No
Of what does the port-wine stain of SWS consist?
excessively numerous, dilated, well-formed capillaries in the dermis
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)
What is the most common ocular complication of SWS?
glaucoma, occurring in 70% of patients with SWS
What are the ocular findings in ataxia-telangiectasia (AT)?
1) motor abnormalities (inability to initiate saccades), 2) conjunctival telangiectasia
What percent of children with AT have conjunctival telangiectasia?
91%
What is the earliest ocular feature of AT?
Ocular motility dysfunction
What is the inheritance of incontinentia pigmenti (IP)?
X-linked dominant
What is the primary ocular finding in IP?
1) proliferative retinal vasculopathy resembling ROP
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
What is craniosynostosis?
Premature closure of 1 or more cranial sutures during the embryonic period or early childhood
A large proportion of the craniosynostosis syndromes are related to mutations in which genes?
The FGFR (1, 2, and 3) and TWIST genes
Do patients with Crouzon syndrome generally have normal intelligence?
Yes
Do patients with Crouzon syndrome normally have hand or foot abnormalities?
No, unlike many of the other craniosynostosis syndromes.
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
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.
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)
What is the ratio of males to females presenting with ocular trauma in childhood?
3:1
What outranks trauma as a leading reason for ocular surgery in children?
Strabismsus (trauma is #2)
What is the most common intracranial finding in shaken baby syndrome?
Subdural hematoma
What are the most common ocular manifestations of shaken baby syndrome?
1) Retinal hemorrhage (most common), 2) perimacular folds, 3) retinoschisis cavities
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
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
Is there universally accepted medical treatment for hyphema in children at present?
No (some advocate steroids, cycloplegics, and/or antifibrinolytics)
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)
What is the usual presenting sign of an orbital roof fracture in a child?
Hematoma of the upper eyelid
When should a blink reflex to bright light be present in a neonate?
within a few days after birth
By what age should a baby be able to make and maintain eye contact with other humans?
6 weeks
By what age should infants be interested in bright objects?
2-3 months
What is sunsetting?
tonic downward deviation of both eyes
After what age are disconjugate eye movements, skew deviation, and sunsetting no longer considered normal in infants?
after 4 months
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)
