Genetic Retinal Disease Flashcards

1
Q

What is retinitis pigmentosa caused by

A

Loss of rod photoreceptors

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2
Q

Presentation of retinitis pigmentosa

A

Night time blindness
Progressive visual loss

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3
Q

How is retinitis pigmentosa inherited

A

Autosomal domination
Recessive
X linked

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4
Q

What is most commonest mutation in retinitis pigmentosa

A

RHO gene on chromosome 3

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5
Q

What does rho gene code for

A

Rhodopsin

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6
Q

Presentation of retinitis pigmentosa

A

Tunnel vision
Nyctalopia - night blindness
Decrease visual acuity
Bilateral involvement

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7
Q

Fundoscopy of retinitis pigmentosa

A

Retinal Pigmentary changes e.g. bony spicules
Waxy disc pallor
Arteriolar attenuation

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8
Q

Management of retinitis pigmentosa

A

None as such
Vitamin A
Gene therapy

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9
Q

Inheritance pattern of choroideremia

A

X linked

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10
Q

What is choroideremia

A

Widespread progressive degeneration of the photoreceptors, RPE and choriocapillaris

Complete loss of choroid which exposes the underlying white sclera

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11
Q

Who is most likely to be affected if it is x linked

A

Males

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12
Q

What gene is affected in choroideremia

A

CHM gene encoding the REP-1 protein

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13
Q

Fundosocpic finding in choroideremia

A

Widespread pigment clumping

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14
Q

What is leber congenital amaurosis

A

Cause profound visual loss by age of 1

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15
Q

Inheritance of leber congenital amaurosis

A

Autosomal recessive

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16
Q

Inheritance of Stargardt disease

A

Autosomal recessive

17
Q

Mutation in stargardt disease

A

ABCA4 in short arm of chromosome 1

18
Q

Features of stargardt disease

A

Bilateral central vision loss
Reading difficulty in teenagers
Color vision abnormalities
Photophobia
Slow dark adaption

19
Q

Fundoscopy of stargardt disease

A

Bulls eye maculopathy
Beaten bronze macula
Deposited lipofuscin

20
Q

Inheritance of best disease

A

Autosomal dominant

21
Q

What mutation causes best disease

A

BEST1 on long arm of chromosome 11

22
Q

Presentation of best disease

A

Slow decline in visual acuity
Central scotoma
Metamorphopsia

23
Q

Fundoscopy of best disease

A

Bilateral yellow egg yolk appearance of the macula

24
Q

What type of inheritance of ocular albinism

A

X linked

25
Q

What mutation is in ocular albinism

A

GPR143

26
Q

Features of ocular albinism

A

Reduced visual acuity
Photophobia
Nystagmus
Strabismus
Refractive errors

27
Q

Management of ocular albinism

A

Reduce sun exposure
Sunglasses
treat refractive errors