Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Posterior Segment Disease > Retinal Dystrophies 1 > Flashcards

Retinal Dystrophies 1 Flashcards

1
Q

Retinal Dystrophies

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Retinitis Pigmentosa

A

rods affected before cones

atypical forms can be associated with systemic disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Symptoms of Retinitis Pigmentosa

A

night blindness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

RP Sine Pigmento

A

atypical RP

pigmentary changes initially absent or minimal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Sector RP

A

atypical RP

pigmentary changes only in 1 or 2 quadrants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Retinitis Punctata Albescens

A

atypical RP

scattered whitish spots, mostly near equator

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Ocular Associations of Retinitis Pigmentosa

A 
cataracts
myopia
optic nerve drusen
glaucoma
keratoconus
PVD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Usher’s Syndrome

A

hearing loss + RP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Diagnosis of RP

A

visual fields
ERG
dark adaptometry

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Albinism

A

abnormal synthesis of melanin

affects eyes alone or eyes and skin and hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Tyrosinase Negative Oculocutaneous Albinism

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
Q

Progressive Cone Dystrophy

A

genetic defect affecting cones

rods unaffected

26
Q

Symptoms of Progressive Cone Dystrophy

A

severe central vision loss

loss of color vision

27
Q

Presentation of Progressive Cone Dystrophy

A

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
Q

Diagnosis of Progressive Cone Dystrophy

A

FAF shows annular changes around fovea
FA shows RPE changes
ERG shows abnormal photopic responses

29
Q

Mx of Progressive Cone Dystrophy

A

no treatment

LV services

30
Q

Congenital Stationary Night Blindness

A

genetic disorders characterized with defective night vision but no peripheral vision loss
early in life
non-progressive

31
Q

Conditions with abnormal fundus for Congenital Stationary Night Blindness

A

Oguchi disease

fundus albipunctatus

Posterior Segment Disease (27 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions