Dystrophies - AAO

Question 1

deep retinal white dots or flecks

Answer 1

retinitis punctata albescens

Question 2

choriocapillaris atrophy

Answer 2

choroideremia

Question 3

retinal thickening and loss of laminations

Answer 3

mutations in CRB1

Question 4

crystalline deposits

Answer 4

Bietti crystalline dystrophy

Question 5

preserved para- arteriolar RPE

Answer 5

CRB1- related retinopathy

Question 6

ERG in retinitis pigmentosa

Answer 6

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.

Question 7

cone dystrophy - ERG

Answer 7

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

Question 8

cone–rod dystrophy - ERG

Answer 8

cone- derived full- field ERG responses are more abnormal than the rod ERG responses

Question 9

Leber Congenital Amaurosis - features

Answer 9

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.

Question 10

Enhanced S- cone disease - other name

Answer 10

Goldmann- Favre syndrome

Question 11

Goldmann- Favre syndrome - other name

Answer 11

Enhanced S- cone disease

Question 12

Enhanced S- cone disease - features

Answer 12

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

Question 13

Enhanced S- cone disease - genetics

Answer 13

autosomal recessive

Question 14

primary retinal or RPE disease that causes advanced atrophy of the choriocapillaris occurs in

Answer 14

choroideremia, gyrate atrophy, Bietti crystalline dystrophy, and phenothiazine- related retinal toxicity

Question 15

choroideremia - genetics

Answer 15

X-linked

Question 16

Gyrate atrophy - features

Answer 16

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

Question 17

Gyrate atrophy - genetics

Answer 17

autoso- mal recessive dystrophy caused by mutations in the gene for ornithine aminotransferase (OAT). elevated plasma levels of ornithine.

Question 18

Gyrate atrophy - treatment

Answer 18

aggressive dietary restriction of arginine intake and, in some cases, vitamin B6 supplementation

Question 19

Bietti crystalline dystrophy - genetics

Answer 19

autosomal recessive

Question 20

Bietti crystalline dystrophy - features

Answer 20

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.

Question 21

most common juvenile macular dystrophy

Answer 21

Stargardt Disease

Question 22

Stargardt Disease - AF

Answer 22

“dark choroid,” or, in other words, blocking of choroidal fluorescence that highlights the retinal circulation

Question 23

Stargardt Disease - FAF

Answer 23

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

Question 24

Stargardt Disease - genetics

Answer 24

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.

Question 25

Best dystrophy - diagnostics

Answer 25

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

Question 26

Best dystrophy - genetics

Answer 26

autosomal dominant maculopathy caused by mutations in the BEST1 gene (VMD2)

Question 27

Adult- Onset Vitelliform Lesions - onset

Answer 27

appears in the fourth to sixth decades

Question 28

Early- onset drusen - 3 entities

Answer 28

(1) large colloid drusen, (2) Malattia Leventinese, and (3) cuticular drusen

Question 29

Sorsby macular dystrophy - genetics

Answer 29

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)