SR62

Best Disease (IIB)

Male

Male

SR62

Best Disease (IIB)

Male

Male

Visit at age: 13 years

Fundus Photography - Right - 20/25 -2 sc

Exemplar

Fundus Photography - Left - 20/40 +2 sc

Exemplar

Fluorescein Angiography - Right - 20/25 -2 sc

Exemplar

Fluorescein Angiography - Left - 20/40 +2 sc

Exemplar

Visit at age: 15 years

Fundus Photography - Right - unknown

Exemplar

Fundus Photography - Left - unknown

Exemplar

Visit at age: 18 years

Fundus Photography - Right - 20/50 -2 cc

Exemplar

Fundus Photography - Left - 20/50 -2 cc

Exemplar

Visit at age: 21 years

Fundus Photography - Right - 20/50 -1 cc

Exemplar

Fundus Photography - Left - 20/100 cc

Exemplar

Fluorescein Angiography - Right - 20/50 -1 cc

Exemplar

Fluorescein Angiography - Left - 20/100 cc

Exemplar

Teaching Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Ala243Thr GCG>ACG   AD
Disease:
Gene:
Allele 1:
Ala243Thr GCG>ACG
Allele 2:
 
Inheritance:
AD
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