Dystrophies - AAO Flashcards
deep retinal white dots or flecks
retinitis punctata albescens
choriocapillaris atrophy
choroideremia
retinal thickening and loss of laminations
mutations in CRB1
crystalline deposits
Bietti crystalline dystrophy
preserved para- arteriolar RPE
CRB1- related retinopathy
ERG in retinitis pigmentosa
The ERG response in eyes with rod– cone dystrophies typically shows a loss or a marked reduction in rod- derived responses, more than in cone- derived responses. Both a-and b- waves are reduced because the photoreceptors are primarily involved. The b- waves are characteristically prolonged in time as well as diminished in amplitude. Individuals with the carrier state of X- linked recessive RP often show a mild reduction or delay in b- wave responses.
cone dystrophy - ERG
full- field ERG. Cone dystrophies are diagnosed when ERG results indicate an abnormal or undetectable photopic ERG response and a normal or near- normal rod- isolated ERG response. When pres ent, the cone flicker ERG response is almost invariably delayed
cone–rod dystrophy - ERG
cone- derived full- field ERG responses are more abnormal than the rod ERG responses
Leber Congenital Amaurosis - features
Central macular atrophic le- sions (sometimes incorrectly referred to as macular colobomas) are often seen in eyes with LCA, in addition to early- onset cataracts and keratoconus in older children.
Enhanced S- cone disease - other name
Goldmann- Favre syndrome
Goldmann- Favre syndrome - other name
Enhanced S- cone disease
Enhanced S- cone disease - features
night blindness, increased sensitivity to blue light, pigmentary retinal degeneration, an optically empty vitreous, hyperopia, pathognomonic ERG abnormalities, and varying degrees of peripheral to midperipheral visual field loss
Enhanced S- cone disease - genetics
autosomal recessive
primary retinal or RPE disease that causes advanced atrophy of the choriocapillaris occurs in
choroideremia, gyrate atrophy, Bietti crystalline dystrophy, and phenothiazine- related retinal toxicity
choroideremia - genetics
X-linked
Gyrate atrophy - features
night blindness during the first de cade of life, and experience progressive loss of visual field and visual acuity later in the courseof the disease. Macular edema is commonly present. large, geographic, peripheral paving- stone– like areas of atrophy of the RPE and choriocapillaris. Rest of RPE - hiperpigmentation
Gyrate atrophy - genetics
autoso- mal recessive dystrophy caused by mutations in the gene for ornithine aminotransferase (OAT). elevated plasma levels of ornithine.
Gyrate atrophy - treatment
aggressive dietary restriction of arginine intake and, in some cases, vitamin B6 supplementation
Bietti crystalline dystrophy - genetics
autosomal recessive
Bietti crystalline dystrophy - features
nyctalopia, decreased vision, and paracentral scotomas in the second to fourth decades. intraret i nal yellow- white crystals are visible in the posterior retina and in the peripheral cornea near the limbus. As the disease progresses, widespread retinochoroidal atrophy develops and peripheral vision worsens.
most common juvenile macular dystrophy
Stargardt Disease
Stargardt Disease - AF
“dark choroid,” or, in other words, blocking of choroidal fluorescence that highlights the retinal circulation
Stargardt Disease - FAF
elevated background autofluorescence and characteristic findings, including peripapillary sparing of the RPE changes, central macular hypo- autofluorescence, and, over time, an outward expanding pattern of hyperautofluorescent flecks, which leave hypoautofluorescent areas in their wake
Stargardt Disease - genetics
autosomal recessive and are due to mutations in the ABCA4 gene. The ABCA4 gene encodes an adenosine triphosphate (ATP)- binding cassette (ABC) transporter protein expressed by rod outer segments and RPE.
Best dystrophy - diagnostics
The ERG response is characteristically normal, but the electro- oculogram (EOG) result is almost always abnormal, even in “unaffected,” asymptomatic individuals who have the causative ge ne tic variant but have normal- appearing fundi. The light rise of the EOG is typically severely reduced or absent. Before ordering an EOG to rule out Best disease, clinicians should ensure that the full- field ERG is normal
Best dystrophy - genetics
autosomal dominant maculopathy caused by mutations in the BEST1 gene (VMD2)
Adult- Onset Vitelliform Lesions - onset
appears in the fourth to sixth decades
Early- onset drusen - 3 entities
(1) large colloid drusen, (2) Malattia Leventinese, and (3) cuticular drusen
Sorsby macular dystrophy - genetics
dominantly, bilateral, subfoveal, choroidal neovascular lesions at approximately 40years of age. As the macular lesions evolve, they take on the appearance of geographic atrophy, with pronounced clumps of black pigmentation around the central ischemic and atrophic zone (a pseudoinflammatory appearance)
