PEDS Flashcards
Megalocornea: 1) Indicates a corneal diameter of what?
2) Uni or bilateral?
3) Inheritance?
1) 13mm or greater
2) Bilateral (usually)
3) X-linked inheritance
What late ocular changes are found in children with primary megalocornea?
1) Corneal Mosaic Degeneration
2) Arcus juvenilis
3) Presenile cataracts
4) Glaucoma
- Nonprogressive enlargement of the K
Homocystinuria: 1) how is the diagnosis confirmed?
2) Inheritance?
1) Detection of disulfides in the urine
2) AR
(also a/w lens dislocation, CNS and skeletal defects)
Sulfite oxidase deficiency
1) also known by what name?
2) what are the findings in urine?
1) molybdenum cofactor deficiency
2) Increased excretion of sulfite (enzyme deficiency interferes with conversion of sulfite to sulfate
A patient has ectopia lentis and increased urinary sulfites, what is the likely diagnosis?
Sulfite oxidase deficiency (AKA molybdenum cofactor deficiency)
What is the preferred laboratory testing in a child with unilateral congenital cataract?
None is typically needed
-Unilateral is usually not a/w occult systemic or metabolic disease
Bilateral congenital cataracts:
isolated inherited cataracts have what inheritance pattern?
AD
What is the MC ophthalmologic manifestation of abusive head trauma?
Retinal hemorrhages (bilateral)
- incidence is 80%
- hemorrhages are preretinal, intraretinal, subretinal
Patients with refractive accommodative esotropia have an average of how many diopters of hyperopia?
1) +4.00 D hyperopia
compared to High AC/A ratio esotropia which averages +2.25 D
In High AC/A ratio esotropia, the how does the deviation at near compare to the deviation at distance?
1) The deviation is present only at near or is much larger at near
- In refractive accommodative esotropia, the angle of esotropia is roughly the same at distance and near fixation
Congenital esotropia is present by what age?
Present by 6 months of age
also known as infantile esotropia
When selecting an IOL for a small child undergoing cataract sx, the target refraction must account for the _____ shift that occurs with growth
MYOPIC shift that occurs with growth
- Child’s eye elongates throughout 1st decade and beyond.
Most surgeons implant IOLs with powers that children are anticipated to require in adulthood.
Target refraction also takes into account consideration of the fellow eye and risk of amblyopia
Which cause of leukocoria is a/w microphthalmos?
PFV
What other ocular findings/issues are a/w PFV?
1) Microphthalmos
2) elongated ciliary processes
3) cataract
4) RD
5) Angle-closure glaucoma
Nasolacrimal duct obstruction:
1) Incidence?
2) Usually caused by what?
3) Early treatment includes what?
1) 5-20% newborns
2) Persistent membrane at the valve of Hasner
3) Lacrimal sac massage and antibiotic usage, often spontaneously resolves in first 9-12 months,
What are the signs of a CN3 palsy?
Limitation of adduction, elevation, depression, ptosis, fixed/dilated pupil
- eye is usually turned down and out
What is the primary deviation referring to when discussing strabismus? Secondary deviation?
1) Primary = The amount of strabismus present when the normal eye is fixating
2) Secondary = amount of strabismus with the paretic eye fixating
(Secondary deviation > Primary deviation)
ON Hypoplasia is the MC developmental optic disc anomaly and has what characteristic appearance?
1) Disc may be pale, gray, small, vascular tortuosity
2) Yellow-to-white ring around the disc (known as double-ring sign) may be present
ON hypoplasia is characterized by a decreased # of ON axons and is a/w visual acuity within what range?
20/20 to NLP
What is the inheritance of ON Hypoplasia?
What syndromes or abnormalities can it be a/w with?
1) Usually idiopathic and sporadic
2) More prevalent in Fetal Alcohol Syndrome, maternal ingestion of phenytoin, quinine and LSD
3) Segmental ONH 2/2 maternal DM
4) ONH may be a/w CNS abnorm, Pit gland dysfunction
Periventricular leukomalacia in children can have what findings of the optic nerve?
ONH that may be mistaken for glaucomatous cupping
Morning glory disc anomaly (MGDA) is more common in girls and is typically unilateral has been a/w what type of retinal detachment?
Serous RD in 1/3 of cases
What other abnormalities is MGDA associated with?
1) Basal encephalocele
2) PHACE syndrome
3) carotid circulation abnormalities (moyamoya disease)
What abnormalities are found in PHACE syndrome?
1) Posterior fossa malformations
2) Hemangiomas
3) Arterial lesions
4) Cardiac anomalies
5) Eye anomalies
What imaging should be considered in Morning Glory Disc Anomaly?
1) MRI Brain
2) MRA
What is the MC cause of visual impairment in children with Abusive head trauma?
Cortical or cerebral injury (neurologic damage)
- retinal and optic nerve injury are less-common
1mm of decentration of the corneal light reflection corresponds to how many diopters of deviation using Hirschberg?
15 D per 1 mm (or approx 7 degrees)
An esotropic eye will produce a light reflex that is displaced in what direction from the center of the pupil?
Temporally
The greatest risk of rebleeding in a traumatic hyphema occurs how long after initial injury?
3-7 days
A 4 year old has lytic bony changes on CT and superotemp orbital mass. Biopsy shows fibrous connective tissue and an infiltrate of eosinophils and histiocytes. What is the diagnosis?
1) Eosinophilic Granuloma
- Usually located in superotemp orbit
- commonly results in lytic bony lesions of the orbital roof
- diabetes insipidus is a possible systemic manifestation
What is a possible systemic manifestation of Eosinophilic granuloma?
Diabetes insipidus
What is another name for Fusion maldevelopment nystagmus syndrome (FMNS)?
Latent nystagmus
Latent nystagmus (AKA Fusion maldevelopment nystagmus syndrome) is a marker of fusion maldevelopment such as in infantile esotropia. Describe the exam findings when 1 eye is occluded?
A conjugate jerk nystagmus occurs with the fast phase toward the fixating eye.
- this is the only form of nystagmus that changes direction with a change in fixation
Congenital vertical nystagmus is associated with what type of ocular disease?
Inherited retinal dystrophies
Periodic alternating nystagmus (PAN) may be seen in what conditions?
1) Albinism
2) Arnold-Chiari Malformation
See-saw nystagmus may be associated with a lesion where?
Rostral midbrain lesions such as craniopharyngioma
What is the most frequent cause of childhood visual impairment in developed countries?
Retrogeniculate impairment - such as amblyopic visual deficits which results primarily from visual cortical changes
What is delayed visual maturation?
Normal visual fixation and tracking does not develop within the first 3 months of life
What gram stain findings would be seen in N. gonorrhoeae
GNID (gram negative intracellular diplococci)
How is low serum IGF-1 related to ROP severity?
positively correlated with severity
What is stereopsis testing likely to show in a patient with well-controlled intermittent exotropia?
Excellent stereopsis
What is the most common treatment for high AC/A ratio?
Bifocals with a +3.00 Add to decrease accommodative drive
- cholinesterase inhibitors such as echothiophate iodide and surgery are other options
What is the MoA of echothiophate iodide?
cholinesterase inhibitor
What is the most characteristic optic nerve finding of dominant optic atrophy?
wedge-shaped optic nerve pallor
Dominant optic atrophy:
1) what is the vision typically
2) what are the visual field findings
1) 20/40 - 20/100
2) central or cecocentral scotoma
Dominant optic atrophy: what does color vision testing show?
Blue dyschromatopsia (Tritanopia) (Trident is Dominant: DOA)
Orbital myositis involves nonspecific orbital inflammation confined to 1 or more extraocular muscles. What CT/MRI findings suggest this diagnosis?
Diffusely Enlarged muscles with tendon involvement
In contrast to Thyroid myopathy which SPARES tendon
What vision testing method is appropriate in preverbal infants or children with cognitive or verbal delays?
Teller acuity testing
In children age 2-5 who don’t know the alphabet, what vision testing methods might be preferred?
Matching tests such as HOTV and LEA symbols may be cognitively easier.
What is the MC presentation of RB (exam finding)?
Leukocoria
approx 1/4 cases present with strabismus
Which of the following are a/w infantile esotropia:
1) Symmetric smooth pursuit in horiz gaze
2) DVD
3) Ocular flutter
4) Manifest vertical nystagmus
DVD
What information does preferential looking testing provide?
quantitative visual acuity in children who can not cooperate for subjective visual acuity testing (Teller acuity cards are used)
What degree of excyclotorsion in downgaze is expected in bilateral SO palsy?
10 degrees or greater
Fetal Alcohol Syndrome is a craniofacial syndrome with what characteristics?
- Short palpebral fissures
- telecanthus
- Strabismus (usually esotropia)
- Ptosis
(can include ON Hypoplasia, retina vasculature tortuosity)
What type of stabismus is most commonly a/w Fetal Alcohol Syndrome?
Esotropia
What are the findings in congenital CMV?
list 10
- Intraventricular calcifications
- Microcephaly
- Fever
- Jaundice
- Hearing Loss
- Retinitis
- Optic Nerve Abnormalities
- Microphthalmos
- Cataract
- Uveitis
What is the mainstay treatment for sight-threatening congenital CMV?
IV Ganciclovir
A child is diagnosed with intraocular RB, what adjunctive test should be performed?
MRI Brain - to evaluate for extraocular or intracranial involvement
Injection of steroids into a capillary hemangioma may be used in refractory / visually threatening cases, what is the major risk a/w with this?
CRAO
What is the MC mode of inheritance in NF1?
AD
but about 50% of cases have no fhx
You treat a child and suspect non-accidental trauma, what should you do?
Contact the designated governmental agency to report suspected child abuse
How does a dacryocystocele present one exam? (1. appearance, 2. Symptoms, 3. Age)
- Bluish swelling just below and nasal to the medial canthal tendon
- Epiphora, periocular crusting ( sxs of NLDO)
- Presents at birth or within first few days of life
(Dermoid cysts and encephaloceles typically present above the medial canthal tendon)
What Brain imaging findings and CSF findings are seen in IIH?
Normal to small size ventricles and normal CSF contents
What drugs are a/w IIH?
- Tetracyclines
- Corticosteroids
- Vitamin A
- Nalidixic acid
- Thyroid medications
- Growth Hormones
What is the classic triad of spasmus nutans?
1) nystagmus (small amp, high freq, pendular)
2) head nodding
3) torticollis
Spasmus nutans typically develops within the first year of life, is benign, and resolves after several years. Why then is neuroimaging recommended?
Nearly impossible to distinguish from other childhood conditions of nystagmus:
1) Glioma of anterior visual pathway
2) Parasellar or hypothalamic tumors
What is Peters Anomaly consist of?
Posterior corneal defect w/ overlying stromal opacity, often with adherent iris strands
What are the features of Peters-plus Syndrome?
1) Short stature
2) craniofacial abnormalities
3) shortened fingers and toes
4) intellectual disability
5) Peters Anomaly
Bilateral Peters anomaly warrants what type of evaluation?
Genetic
- Peters-plus syndrome is caused by biallelic B3GLCT mutations
Paradoxical pupils (pupil constriction in response to darkness) are most commonly associated with what diagnosis?
Retinal Dystrophy
although they can occur with optic neuropathies
What are the motility characteristics of monocular elevation deficiency?
1) Incomitant strabismus where there is deficient elevation in all horizontal orientations of the eye.
2) Depression is typically normal
(Elevation deficit in adduction suggests IO palsy, Elevation deficit in abduction suggests SR palsy)
What is the most common reason for adult-onset optic neuropathy in NF2?
Optic nerve sheath meningioma
will see optic nerve sheath thickening and enhancement
A child with NF1 presents with bulbous enlargement of the intracranial optic nerve on MRI and swollen optic nerve, what is the diagnosis?
1) Optic pathway glioma
- 20% of patients with NF1
- Usually presents in childhood
Babies born to mothers with Insulin dependent diabetes (not gestational diabetes) have a higher risk of what ON condition?
Superior ON Hypoplasia
Ptosis in a pediatric patient may cause what types of amblyopia?
1) Deprivational (occlusion of the visual axis)
2) Anisometropic (induced astigmatism in the affected eye)
What is the earliest sign of anterior segment ischemia following strabismus surgery?
AC Cell and flare
What are the ocular findings in congenital rubella syndrome?
1) Pigmentary retinopathy (ranging from salt-and-pepper appearance to pseudoretinitis pigmentosa)
2) Cataract
3) Glaucoma
4) Microphthalmia
What extraocular manifestations are a/w congenital rubella?
Hearing loss, Cardiac Abnormalities
What are the ocular findings with congenital syphilis?
1) Chorioretinitis with a salt-and-pepper retinopathy
2) Interstitial keratitis
3) Uveitis
4) Glaucoma
(Not cataracts!)
Tuberous sclerosis (AKA Bourneville disease) is a/w defects in what 2 genes?
Tuberin gene
Hamartin gene
What are the features of Tuberous sclerosis (Bourneville dz)?
1) Retinal phakomas
2) Cognitive disability
3) Seizure
4) Facial angiofibromas
5) Ungual fibromas
6) Ash leaf spots
7) Shagreen patches
What is the MC ocular finding a/w MGDA?
RD (up to 30%)
Abnormal development of the distal optic stalk at its junction with the primitive optic vesicle results in what anomaly?
MGDA
What is Moyamoya disease and what ocular condition is it a/w?
1) constriction of the internal carotid arteries as they enter the skull base and join the circle of Willis - vessel constriction may lead to strokes, may need antiplatelet therapy to treat
2) MGDA
What is the most common identifiable etiology of anterior uveitis in a child?
Juvenile idiopathic arthritis
ANA positivity is typically present and indicative of the diagnosis; RF is typically negative
What is the MC cause of metastatic orbital malignancy in children?
Neuroblastoma
A child has neuroblastoma and acquired Horner syndrome. What is the most likely site of the causative neuroblastoma?
Primary cervical/apical sympathetic chain
neuroblastoma usually arises from adrenal gland or sympathetic ganglion chain
What is the most common exodeviation?
Intermittent exotropia
____ is an autosomal recessive condition caused by a genetic mutation in the ATM gene on chromosome 11 that results in defective repair of DNA breaks
Ataxia-Telangiectasia (AKA Louis-Bar Syndrome)
What are the characteristics of Ataxia Telangiectasia?
1) Early-onset Ataxia b/w 1-5 yrs age
2) Cutaneous telangiectasia and visceral telangiectasias that can bleed
3) Difficulty initiating saccades, with preservation of vestibular-ocular movements (ocular motor apraxia)
4) +/- strabismus, nystamgus
5) immunologic deficiency, leading to increased infections, malignancy
6) coarse hair and skin
Wyburn-Mason syndrome (Racemose angioma) involves AV malformation of the eye and brain- what is the inheritance pattern?
Non-hereditary
Von Hippel-Lindau involves angiomatosis/ capillary hemangioblastomas of what 2 organs?
Retina
Brain (cerebellum)
What is the MC age of onset of accommodative esotropia?
1-3 yrs
can occur b/w 6 months - 7 yrs
Orbital cellulitis in a 7 yr old arises from where most commonly?
Ethmoid sinus
in a 7 yr old, maxillary and frontal sinuses are underdeveloped
Orbital cellulitis infections are usually polymicrobial in what population?
Adults - polymicrobial (including gram+ cocci, moraxella, H. flu)
Peds: Usually single organism (gram +)
In orbital cellulitis, do adults or children usually require early surgical intervention?
Adults - early surgical intervention (mne: adults also polymicrobial infxn)
Children often improve with IV abx alone
What are the clinical features of Mobius syndrome?
1) 6th and 7th nerve palsies (may be bilateral)
2) May present with Esotropia, mask-like facies
3) many pts have limb, chest, tongue defects
How is DHD typically treated?
Lateral rectus recession
DHD is characterized by dissociated abduction movement
What are the adverse effects of pilocarpine (ocular)?
miosis, RD, headache, nausea, vomiting, diarrhea
What is the MC antimetabolite used to treat uveitis in children?
1) Methotrexate
azathioprine and mycophenolate mofetil may also be used
Why is etanercept avoided in the treatment of uveitis?
it may cause inflammatory ocular disease
Aside: etanercept is a TNF alpha inhibitor
