Case
SR2781
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2781
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 11 years
Fundus Photography - Right - 20/60 sc
Exemplar
Fundus Photography - Left - 20/30 sc
Exemplar
Visit at age: 15 years
Fundus Photography - Right - 20/80 -1
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Arg218Cys CGT>TGT | AD |