Hereditary Dystrophies Flashcards
(24 cards)
Retinitis pigmentosa
Arteriolar narrowing Waxy pallor of the disc Bone spicules Strophic pr Atrophy of peripheral retina CME PSC cats
Chiroideremia
Rod-cone dystrophy
CHM (Xlinked)
Night blindness in second decade
RP ERG and genetics
Decreased a and b waves
Prolonged b wave and decreased amplitude
20% AR
20% AD.
Rest sporadic
Lebers congenital amaurosis
Infantile RP
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Cone dystrophies
Dyschromatopia
Hemerolopia
Progressive decreased VA
Stargardt dystrophy
Most common 7% of macular dystrophies
Defect in ATP binding cassette in rods
AR mostly
Expanding central scotoma with foveal atrophy
Best’s dystrophy
Central maculopathy childhood onset
Defect in bestrophin protein (CL channel)
AD
VMD2 on chrom 11
Abnormal EOG severe loss of light response
20% can get CMV
Fungus flavimaculatum
Predominantly peripheral retina
Lipofuscin round flecks in RPE
Stargardts disease
FA with dark choroid
Foveal atrophy
Lipofuscin yellow flecks in macula
Adult onset vitelliform dystrophy
Adult ‘bests disease’
Pattern dystrophy Bilateral round us foveal lesions 40-60 yrs old Normal EOG 1/3 disc diameter in size Drusenoid RPE detachment
Familial dominant Drusen
Drusen in young people
Outside arcades nasal to disc
AD
Pattern dystrophy
Midlife onset
Blurring
Mild metamorphosis
Sorsby macular dystrophy
Bilateral sub foveal CNV Defect in metalloproteinase AD TIMP3 chrom 22 Onset around 40 Confluence plaque of Drusen
Gyrate atrophy
Ornithine transferase gene defect
Night blindness
Scalloped peripheral atrophy
Central areolar choroidal dystrophy
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North Carolina macular dystrophy
Central RPE atrophy with sub retinal fibrosis
X-linked retinoschisis
Splitting in NFL Congenital and X-linked Spoke like intraretinal cysts RS1 ERG with normal a wave. Attenuated b wave
Goldmann Favre syndrome
Enhanced s-cone or blue come syndrome
AR
Two times the number of cones. Only see blue
No rods!
Night blindness. And sensitively to blue light
Goldmann Favre syndrome findings on exam
Abnormal ERG. With greater response to blue light
Arden ratio
For EOG. Ratio of light to dark peak. 2:1 normal.
1.65 or less abnormal
Diseases with normal ERG and abnormal EOG
Beats disease Pattern dystrophies Chloroquine toxicity CSNB X-linked retinoschesis
AREDS clinical severity scale.
1 pt - at least 1 large Drusen
1 pt - pigment changes. (Hypo, hyper, non central GA)
2 pt- advanced AMD in 1 eye.
Total both eyes.
Risk if developing advanced disease in 5 yrs: 1 - 3%, 2 - 12%, 3 - 25%, 4 - 50%
Risk of CNV in fellow eye if
- hard Drusen present
- soft Drusen present
- pigmented Drusen present
- soft and pigmented Drusen present
Hard 10% risk
Soft 30% risk
Pigmented 30% risk
Soft and pigmented 60% risk
Gyrate atrophy
AR Mutation in OAT gene High myopia with high astigmatism PSC cats Elevated ornithine levels treated with dietary restriction of Arginine
