Retinal Dystrophies 2

Question 1

Best’s Macular Dystrophy

Answer 1

RPE lesion at post pole that leads to egg yolk appearance of macula
causes central vision loss

Question 2

Pre-Vitelliform Stage of Best’s

Answer 2

asymptomatic
normal fundus
abnormal EOG

Question 3

Vitelliform Stage of Best’s

Answer 3

egg yolk lesion early in childhood
excessive lipofuscin
VAs normal

Question 4

Pseudohypopyon Stage of Best’s

Answer 4

partial reabsorption of lesion

puberty

Question 5

Vitelliruptive Stage of Best’s

Answer 5

lesion breaks up forming scrambled egg appearance

notice visual impairment

Question 6

Atrophic Stage of Best’s

Answer 6

lesion disappears leaving atrophic macula
subretinal fibrosis/ scarring, sometimes with CNV
end stage

Question 7

Prognosis of Best’s

Answer 7

good until macular scarring or atrophy

Question 8

Diagnosis of Best’s

Answer 8

egg yolk macula
EOG abnormal
ERG normal

Question 9

Pattern Dystrophy

Answer 9

group of genetic diseases of RPE
patterns of lipofuscin deposits within macula
later in life
asymptomatic or subtle central vision issue

Question 10

Adult Onset Macular Vitelliform Dystrophy

Answer 10

pattern dystrophy
in adults
smaller egg yolk lesion that does not progress to other Best’s stages
no macular atrophy- normal vision

Question 11

Butterfly Macular Dystrophy

Answer 11

pattern dystrophy

lipofuscin deposits in triradiate butterfly pattern

Question 12

Pattern Dystrophy simulating Fundus Flavimaculatus

Answer 12

DD of Stargardt’s

Light colored lesions similar to flavimaculatus

Question 13

Difference b/t Pattern Dystrophy and Stargardt Fundus Flavimaculatus

Answer 13

lesions not visible until adulthood
no dark choroid with FA
little affect on vision

Question 14

Diagnosing Pattern Dystrophy

Answer 14

ERG norm

EOG mostly abnormal

Question 15

Mx of Pattern Dystrophy

Answer 15

monitor for vision changes

review of systems

Question 16

Familial Dominant Drusen

Answer 16

leads to early onset accumulation of macular drusen- AMD
teens
lesions fuse to have honeycomb appearance
symptomatic in 30s - 40s

Question 17

Central Areolar Choroidal Dystrophy

Answer 17

slowly expanding macular atrophy without drusen or lipofuscin
progressive fundus changes
central vision impairment

Question 18

Fundus Changes of Central Areolar Choroidal Dystrophy

Answer 18

pigmentary changes of fundus
well circumscribed area of RPE and choriocapillaris loss at macula
geographic atrophy

Question 19

North Carolina Macular Dystrophy

Answer 19

central macular defects present at birth but rarely progresses
wide range of VAs 20/20 to 200

Question 20

Grade 1 NC Macular Dystrophy

Answer 20

fine drusen-like deposits within RPE at macula

Question 21

Grade 2 NC Macular Dystrophy

Answer 21

larger confluent deposits at macula

Question 22

Grade 3 NC Macular Dystrophy

Answer 22

well defined macular chorioretinal atrophy

appears like a coloboma