Retinal Dystrophies 2 Flashcards
Best’s Macular Dystrophy
RPE lesion at post pole that leads to egg yolk appearance of macula
causes central vision loss
Pre-Vitelliform Stage of Best’s
asymptomatic
normal fundus
abnormal EOG
Vitelliform Stage of Best’s
egg yolk lesion early in childhood
excessive lipofuscin
VAs normal
Pseudohypopyon Stage of Best’s
partial reabsorption of lesion
puberty
Vitelliruptive Stage of Best’s
lesion breaks up forming scrambled egg appearance
notice visual impairment
Atrophic Stage of Best’s
lesion disappears leaving atrophic macula
subretinal fibrosis/ scarring, sometimes with CNV
end stage
Prognosis of Best’s
good until macular scarring or atrophy
Diagnosis of Best’s
egg yolk macula
EOG abnormal
ERG normal
Pattern Dystrophy
group of genetic diseases of RPE
patterns of lipofuscin deposits within macula
later in life
asymptomatic or subtle central vision issue
Adult Onset Macular Vitelliform Dystrophy
pattern dystrophy
in adults
smaller egg yolk lesion that does not progress to other Best’s stages
no macular atrophy- normal vision
Butterfly Macular Dystrophy
pattern dystrophy
lipofuscin deposits in triradiate butterfly pattern
Pattern Dystrophy simulating Fundus Flavimaculatus
DD of Stargardt’s
Light colored lesions similar to flavimaculatus
Difference b/t Pattern Dystrophy and Stargardt Fundus Flavimaculatus
lesions not visible until adulthood
no dark choroid with FA
little affect on vision
Diagnosing Pattern Dystrophy
ERG norm
EOG mostly abnormal
Mx of Pattern Dystrophy
monitor for vision changes
review of systems
Familial Dominant Drusen
leads to early onset accumulation of macular drusen- AMD
teens
lesions fuse to have honeycomb appearance
symptomatic in 30s - 40s
Central Areolar Choroidal Dystrophy
slowly expanding macular atrophy without drusen or lipofuscin
progressive fundus changes
central vision impairment
Fundus Changes of Central Areolar Choroidal Dystrophy
pigmentary changes of fundus
well circumscribed area of RPE and choriocapillaris loss at macula
geographic atrophy
North Carolina Macular Dystrophy
central macular defects present at birth but rarely progresses
wide range of VAs 20/20 to 200
Grade 1 NC Macular Dystrophy
fine drusen-like deposits within RPE at macula
Grade 2 NC Macular Dystrophy
larger confluent deposits at macula
Grade 3 NC Macular Dystrophy
well defined macular chorioretinal atrophy
appears like a coloboma
