Peds Retina Flashcards
Achromotopsia
Achromatopsia (NO CONES!) = Rod monochromatism
Present at birth; nonprogressive
Poor central VA (20/200 level), nystagmus, photophobia, “day blindness” (hemeralopia), and photophobia.
Normal-appearing DFE
Paradoxical pupil constriction in dark
AR (CNGA3, CNGB3, GNAT2)
No cone function at all; rods normal
Sees gray (no cones so totally color blind)
Loss of photopic response on ERG
Testing:
– VF: central scotoma;
– ERG: normal scotopic, abnormal photopic (absent cone response)
Classified in two forms:
- rod monochromatism (AR) = no cone fxn @ all, sess gray. No photopic response on ERG
- blue-cone monochromatism (XR).
Cone dystrophy (is achromatopisa a cone dystrophy?) - symmetric bull’s eye maculopathy or more severe atrophy.+/- mild-to-severe temporal optic atrophy
DDx: albinism (lightly-pigmented fundi but have nml cone function and color vision).
congenital color defects (e.g. trichromatism, dichromatism, and achromatopsia) do not have any retinal degeneration unlike cone dystrophy.
Leber’s congential amaurosis (LCA)
Leber congenital amaurosis (LCA)
Inheritance: AR (mutated RPE 65 (converts trans retinal to cis))
can be thought of as a severe form of RP
Which photoreceptors affected?
Both rods and cones
Ocular Sx? Poor Vision, nystagmus sluggish pupils & paradoxic pupils oculodigital reflex, keratoconus Hyperopia
ERG? – Flat ERG is diagnostic
Both LCA and achromotopsia may require an ERG for Dx early in life and are some of the more common causes for abnormal vision with a normal fundus exam in an infant.
Fundus appearance?
Variable – normal (usually at birth), bone spicules, salt & pepper, white dots.
DFE usually normal early in life and becomes similar to retinitis pigmentosa over time (bone spicules, optic nerve pallor, attenuated vessels, etc).
Treatment: None
Ddx - poor vision and extinguished ERGs
– Abetalippoproteinemia (Bassen-Kornzweig syndrome)
– Refsum disease (phytanic acid storage disease), AR
– Both are treatable diseases that may mimic LCA
– Check serum phytanic acid levels and lipid profile
Also think: Battens disease (neuronal ceroid lipofuscinosis)
Cortical visual impairment (CVI)
poor vision 2/2 pathology occurring in the visual pathways somewhere from the LGN to the primary visual cortex in the occipital lobe.
Many different causes= periventricular leukomalacia, stroke, CNS malformations, and in utero infections.
If cortical impairment occurs before week#1 or #2 of life, there may be optic nerve pallor from transynaptic degeneration of retinal ganglion cells although usually CVI patients have normal appearing fundi and ERGs.
Stargardt dz
stARgardt
Inheritance: AR (ABCA4)
Usually 80% whereby the retinal vessels are highlighted against a hypofluorescent choroid in the EARLY phases of the FA.
Due to increased lipofuscin in RPE.
Can occur w/ argyrosis (silver, often from tanning agents)
Full-field ERG normal early disease then worsens like rod-cone dystrophies
Cone dystrophies
refers to the cone dystrophies which can also present with a Bulls eye maculopathy.
However, the end visual acuity is much WORSE compared to Stargardt patients. In addition, Stargardt itself does not confer any color vision defects.
“Hemeralopia” (i.e. day-blindness) occurs in patients with cone dystrophies whereby their vision is actually worse in bright light conditions.
Crystals in retina and cornea
cystinosis = lysosomal storage disease resulting in massive intra-lysosomal cystine accumulation in tissues.
crystals distributed diffusely in the cornea and also in the retina (likely causing this child’s photophobia)
and nephropathy
Rx: systemic cysteamine.
cysteamine gtts to Rx symptomatic corneal crystals.
Cysteamine works by binding to intra-lysosomal cystine to produce end-products which can actually leave the lysosome properly.
There are 3 forms of cystinosis (benign, late-onset, and nephropathic) all of which can have corneal and conjunctival crystals. However, the retinopathy is only found in the nephropathic form.
Coloboma (chorioretinal)
The photo above shows a classic chorioretinal coloboma. All colobomas of the globe are caused by incomplete closure of the embryonic fissure in week 5 of development leading to a tear drop shaped tissue defect in one or more ocular structures. Normal closure of the embryonic fissure begins at the equator inferiorly with the process of closure extending anteriorly and posteriorly.
Colobomas may be isolated to one region of the eye or large and involve all structures of the eye including the optic nerve, choroid/retina, iris, and ciliary body with dysgenesis of zonules focally leading to lens coloboma. Because the embryonic fissure closes inferiorly, most colobomas occur inferiorly as in our patient (so called “typical” coloboma). The majority of typical colobomas are bilateral as in our patient.
Colobomas are by definition present from birth but it is not unusual to find them on examination in adults who have never had an eye exam or were never told that they had a coloboma. Many congenital infections can cause chorioretinal scars including CMV but our patient’s pattern of bilateral, tear drop shaped, inferior chorioretinal lesions are classic for coloboma and do not suggest prior infection. Sarcoidosis can cause choroidal granulomas and retinal vasculitis eventually leading to chorioretinal scars but, again, this patient shows no signs of active inflammation and the pattern of the lesions suggest a congenital anomaly requiring no work-up.
Fabry’s dz
corneal verticillata
abnormally-dilated conjunctival vessels
retinal vessel tortuosity.
caused by mutations in the alpha-galactosidase A gene which causes an accumulation of ceramide trihexoside.
Congenital color deficiency
congenital color deficiencies (deuteranopia, tritanopia, and protanopia) are stationary (non-progressive) in their color vision deficits.
normal visual acuity. (unlike other forms of color blindness like cone dystrophy)
Deuteranomalous (not deuteranopia) is the most common type of congenital color deficiency occurring in approximately 5% of the male population
deuteranopia/deuteranomalous =XR
affect red–green hue discrimination
deuteranomalous can distinguish pure red from pure green (i.e. they are only “color-weak”) vs.
deuteranopia cannot distinguish between these two colors (i.e. they are “color-deficient”).
You are examining a 3-month old infant as an inpatient in the pediatric ward. This child has a history of seizures, mental retardation, hypotonia, and an enlarged liver. On dilated fundus exam, you note severe retinal degeneration OU. Unfortunately, the child passes away at the age of 5 months. Which of the following is the most likely diagnosis?
Zellweger syndrome is the most severe of the three diseases that constitute the “Zellweger spectrum”.
three diseases are (from least to most severe):
(1) infantile Refsum’s
(2) neonatal adrenoleukodystrophy
(3) Zellweger syndrome. The “Zellweger spectrum” is itself a subgroup of diseases under the broader category of “peroxisome biogenesis disorders” (PBD). Individuals with Zellweger’s syndrome do not typically live past the first 6 months of life.
3-month old infant w/seizures, MR, hypotonia, and an enlarged liver. AND severe retinal degeneration OU. Child dies @ 5 mo.
“Zellweger spectrum” = subgroup of diseases under the broader category of “peroxisome biogenesis disorders” (PBD).
Zellweger syndrome = do not typically live past the first 6 months of life; most severe of the three diseases that constitute the “Zellweger spectrum”.
Three diseases are (from least to most severe):
(1) infantile Refsum’s
(2) neonatal adrenoleukodystrophy
(3) Zellweger syndrome.
Gyrate atrophy
The fundus photo shows geographic paving-stone-like areas of atrophy that are coalescing to form a scalloped border between abnormal and normal RPE. These fundus abnormalities are typical of gyrate atrophy, an autosomal recessive condition which is caused by a mutation of the OAT gene.
Mutations in this gene result in markedly-high elevations of ornithine which is toxic to the retina and choroid. Treatment consists of dietary arginine restriction (if possible) and vitamin B6 supplementation (if the patient is actually responsive to this therapy).
The five most prominent features of this disease include: (1) the gyrate retinal and choroidal lesions; (2) posterior subcapsular cataracts; (3) high myopia with high astigmatism (e.g. -6 to -10 diopters of myopia); (4) autosomal recessive pattern; and (5) hyperornithinemia (if ornithine levels are normal, another diagnosis should be entertained). Visual acuity is usually normal in these patients until the age of 10 years.
Myotonic Dystrophy
Myotonic dystrophy - ptosis, cardiac conduction defects, frontal balding, “Christmas-tree” cataract, ophthalmoplegia, pigmentary retinopathy
Algaille syndrome
intrahepatic cholestasis (causing jaundice)
posterior embryotoxon and/or Axenfeld anomaly, pigmentary retinopathy
congenital heart disease, flattened facies
and other bony abnormalities
Waardenburg
Waardenburg syndrome - “dystopia canthorum” (lateral displacement of inner canthi/puncta), deafness, heterochromia, white lock of hair, pale skin/hair/eyes (partial albinism), pigmentary retinopathy
Charcot-Marie Tooth
Charcot-Marie Tooth syndrome - (many phenotypes), distal muscle weakness/wasting, kyphosis/scoliosis, pigmentary retinopathy
cone dystrophy vs. color deficiency
The congenital color deficiencies (deuteranopia, tritanopia, and protanopia) = normal DFE
vs
Cone dystrophy=symmetric bull’s eye maculopathy or more severe atrophy. Also mild-to-severe temporal ON atrophy may also be seen in this condition.
- signs of progressive disease, decreased visual acuity, “day blindness” (hemeralopia), and photophobia.
PFV (persistent fetal vasculature) vs RB
bilateral retinoblastoma (Rb): occurs in ~1/3 of all RB pts. Rare to see microphthalmia
90% of cases of (PFV) are unilateral and spontaneous
Persistent fetal vasculature is the term that has replaced the condition referred to as “persistent hyperplastic primary vitreous” (PHPV)
MCC of a unilateral congenital cataract.
Si/Sx: mild cases presenting with prominent hyaloid vessel remnants and large Mittendorf dots, to severe cases with progressive angle closure glaucoma, TRD, and cataract formation.
microphthalmic compared to the normal fellow
elongated ciliary processes that are visible through a dilated pupil.
Rx: early cataract extraction, membrane excision via vitreoretinal approaches, CL wear, and aggressive amblyopia treatment.
Aicardi syndrome
X-linked dominant disorder (only females; lethal to males)
Clinical triad
(1) oval depigmented chorioretinal lacunae (in RPE) = (most consistent finding)
(2) infantile spasms
(3) agenesis of the corpus callosum.
Other findings: optic nerve hypoplasia/coloboma uveal and optic nerve colobomas microphthalmos cataract
JIA f/u
Oligoarthritis: ANA +, 4 yo… q6mo f/u
Salt and pepper fundus DDx
Leber congenital amaurosis CPEO Bardet Biedhl Rubella retinopathy Congenital syphilis
Mnemonic: Bardet Biehl, the C(p)EO of Leber, has rubella and syphilis
Carriers: Choroideremia, RP, Albinism
Mnemonic for carriers: CR(A)P
Cherry red spot DDx
Gangliosidoses (Tay-Sachs, Sandhoff) Niemann-Pick Lysosomal disorders CRAO Trauma (retinal edema)
Mnemonic: Cherry GaNgster “ly”eads blood and trauma
Potentially lethal forms of albinism
Chediak-Higashi syndrome: Recurrent infections
Hermansky-Pudlak syndrome: Bleeding diathesis
Platelet dysfunction/Puerto-Rican heritage
DDx crystalline retinopathy
Crystalline deposits in the retina = toxic manifestation of tamoxifen, an anti-estrogen drug used in the treatment of metastatic breast carcinoma
methoxyflurane, a nonflammable inhalant general anesthetic agent that may produce oxalosis
canthaxanthine, an oral skin-tanning agent marketed outside the United States
Talc retinopathy, another form of crystalline retinopathy, occurs in drug abusers who inject multiple crushed tablets of methylphenidate (Ritalin), methadone, or other pharmaceuticals that have been compounded or cut with inert, insoluble subtances such as talc.
DDx: Bietti's crystalline dystrophy Sjogren-Larsson syndrome nephropathic cystinosis gyrate atrophy oxalosis.
Age of presentation for retinoblastoma
Average age at diagnosis of a child with a family history of retinoblastoma is 4 months.
A child with bilateral disease often presents at a later age, ~14 months, and unilateral disease ~24 months.
XR pigmentary retinopathies
Bloch-Sulzberger syndrome (Incontinentia pigmenti) = skin pigmentation in lines and whorls, alopecia, dental anomalies, optic atrophy, faciform folds, cataract/nystagmus/strabismus, patchy molting of fundi, conjunctival pigmentation
Hunter syndrome (mucopolysacchardiosis II) - little corneal clouding, mild corneal course, MR, some retinal arteriolar narrowing, subnormal ERG
Pelizaeus-Merzbacher dz - infantile progressive leukodystrophy, cerebellar ataxia, limb spasticity, MR, possible pigmentary retinopathy with absent foveal reflex
MT disorder with pigmentary retinopathy
progressive external ophthalmoplegia, ptosis, pigmentary retinopathy, heart block (Kearns-Sayre), ERG normal to abnormal
juvenile retinoschisis?
• Split at what layer? – NFL (young plays in the NFL) • Common location? – Macula (microcysts, radiating folds, but no leakage on FA) • Associated with VH/vit veils • Inheritance: X-linked (RS1 gene) • ERG/EOG? – Negative ERG (normal A-wave, decreased B-wave) – EOG normal
NO leakage on FA in foveal schisis
Sig disruption of INL and inner portion of Muller
~50% of those with foveal radiating retinal folds also have peripheral retinoschisis
RD occurs in 5-20%. Retinal breaks may develop in inner lamina (75%) or outer lamina (13%).
Female carriers CANNOT be clinically identified.
100% penetrance for foveal schisis even in young kids
Typically: NORMAL a-wave
REDUCED b-wave (2/2 Muller cell dysfxn) IN BOTH photopic/scotopic b-wave amplitudes
AD pigmentary retinopathies
Alagille syndrome (arteriohepatic dysplasia) -
Fundus albipunctatus
form of CSNB characterized by striking yellow-white dots in POSTERIOR POLE
Normal VA and color VA
rod ERG is minimal but normalizes s/p pts spend several hours in a dark environment.
NON-progressive
(not the same as RP albescens, variant of RP)
protanopia
pt born without red-sensitive cone pigment fxn
-perceives long-wavelength portion of the spectrum as being DARKER THAN NORMAL
Pediatric leukocoria
retrolental cicatrix (ROP, FEVR, Norrie) RB PHPV Coats Coloboma Myelinated NFL
Other non-retinal causes: Congenital cataract • Uveitis – Toxocara > others • Organized VH – RNV (ROP/FEVR/pars planitis) – PFV – Trauma (NAT/AT) – Terson’s – Retinoblastoma
“ROP” in term infants with dermatologic/neurologic findings
Incontinentia pigmenti
“ROP” in term infants
Familial exudative vitreoretinopathy (FEVR) Failure of temporal retina to vascularize (like ROP in full-term infant) • Characteristics? – Bilateral – Retinal exudates – Tractional RD – Retinal folds – Temporal dragging of fovea – Exotropia • Inheritance? – AD usually, can be X-linked recessive – chromosome 11q13-q23 (EVR1), 11p13-p12 (EVR3)
“ROP” with dysplastic retina
Norrie Disease
ROP screening - who needs it?
- Gestation 30wks if high risk or unstable clinical course
* High risk: high oxygen and poor weight gain (WINROP)
WHEN to start ROP screening
at 4-6 wks of age or 31-33 wks post-conception (whichever later) • Screen weekly – Any zone I – Zone II, stage 2-3 • Screen q2 weeks – Zone II, stage 1 – Zone II – regressing • When do normal vessels complete vascularization? – Nasal = 36wks – Temporal = 40wks
Rush disease
– Extensive Zone I disease with plus disease
Plus disease
– Vascular tortuosity
– Iris engorgement
– Vitreous haze
– Pupillary rigidity
Threshold ROP
- 5 contiguous or 8 total clock hours
- Stage 3 ROP in zones I or II
- Plus disease
