Retinal Dystrophies 1 Flashcards

1
Q

Retinal Dystrophies

A

hereditary disorders that affect outer retina- photoreceptors and RPE
both eyes

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2
Q

Retinitis Pigmentosa

A

rods affected before cones

atypical forms can be associated with systemic disorders

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3
Q

Symptoms of Retinitis Pigmentosa

A

night blindness

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4
Q

Appearance of Retinitis Pigmentosa

A

retinal bone spicule pigmentary changes
narrowing of retinal arteries
waxy optic disc pallor
possible macular changes- ERM, CME, atrophy

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5
Q

RP Sine Pigmento

A

atypical RP

pigmentary changes initially absent or minimal

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6
Q

Sector RP

A

atypical RP

pigmentary changes only in 1 or 2 quadrants

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7
Q

Retinitis Punctata Albescens

A

atypical RP

scattered whitish spots, mostly near equator

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8
Q

Ocular Associations of Retinitis Pigmentosa

A
cataracts
myopia
optic nerve drusen
glaucoma
keratoconus
PVD
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9
Q

Usher’s Syndrome

A

hearing loss + RP

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10
Q

Diagnosis of RP

A

visual fields
ERG
dark adaptometry

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11
Q

Leber’s Congenital Amaurosis

A

affects both rods and cones at birth- born legally blind
babies with wandering eyes- nystagmus
associated with neurological, renal, bone, endocrine abnormalities

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12
Q

Diagnosis of Leber’s Congenital Amaurosis

A

suspected for babies born with wandering eyes/ nystagmus
pupils show little or no response to light
ERG severely reduced
fundus initially normal

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13
Q

Presentation of Leber’s Congenital Amaurosis

A

progressive RPE degeneration and narrowing of retinal arterioles
severe macular pigmentation or atrophy
optic nerve atrophy
oculodigital syndrome causing enophthalmos

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14
Q

Albinism

A

abnormal synthesis of melanin

affects eyes alone or eyes and skin and hair

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15
Q

Tyrosinase Negative Oculocutaneous Albinism

A

no melanin production
white hair and pale skin
iris and fundus have no pigmentation

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16
Q

Tyrosinase Positive Oculocutaneous Albinism

A

reduced melanin production
lighter hair and skin
iris translucency and iris hypopigmentation

17
Q

Ocular Albinism

A

melanin deficiency limited to eyes
skin and hair normal
males show iris and fundus hypopigmentation, females normal

18
Q

Ocular Presentation of Albinism

A
light sensitivity
reduced VA from foveal hypoplasia
high refractive error
iris translucency
fundus shows choroidal vessels
reduced/ absent stereopsis
19
Q

Ocular Mx of Albinism

A

correct refractive error
tinted lenses
low vision services

20
Q

Systemic Problems of Albinism

A

increased risk of basal and squamous cell carcinoma

21
Q

Stargardt’s Disease

A

abnormal acumulation of lipofuscin within RPE

22
Q

Presentation of Stargardt’s Disease

A

in children
unexplained gradual vision loss
macula appears beaten bronze, progresses to bull’s eye atrophy
light colored flecks in mid periphery- fundus flavimaculatus

23
Q

Diagnosis of Stargardt’s Disease

A

macular changes with surrounding flecks
FA shows dark choroid from lipofuscin accumulation blocking florescence
fundus autofluorescence
abnormal EOG

24
Q

Mx of Stargardt’s Disease

A

no tx
poor prognosis- 20/200
LV services

25
Progressive Cone Dystrophy
genetic defect affecting cones | rods unaffected
26
Symptoms of Progressive Cone Dystrophy
severe central vision loss | loss of color vision
27
Presentation of Progressive Cone Dystrophy
in teen/ young adult as gradual loss of central and color vision macular pigmentary changes that progress to bulls eye appearance and geographic atrophy
28
Diagnosis of Progressive Cone Dystrophy
FAF shows annular changes around fovea FA shows RPE changes ERG shows abnormal photopic responses
29
Mx of Progressive Cone Dystrophy
no treatment | LV services
30
Congenital Stationary Night Blindness
genetic disorders characterized with defective night vision but no peripheral vision loss early in life non-progressive
31
Conditions with abnormal fundus for Congenital Stationary Night Blindness
Oguchi disease | fundus albipunctatus