Case
SR62
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR62
Student Mode
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 - 20/200 sc
Exemplar
Fundus Photography - Left - 20/30 +2 sc
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 20/50 -2
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Visit at age: 21 years
Fundus Photography - Right - 20/50 -1
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Fluorescein Angiography - Right - 20/50 -1
Exemplar
Fluorescein Angiography - Left - 20/100
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
Best Disease |
BEST1 |
Ala243Thr GCG>ACG |
|
AD |
Allele 1:
Ala243Thr GCG>ACG
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis