Case
SR2317
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR2317
Student Mode
Best Disease (IIB)
Female
Female
History
This 47 year old woman first experienced a slight reduction in her visual acuity when she was 5 years old. In her late 20's her visual acuity dropped to the point where she needed large print books. Seven years before we first saw her, she received two anti-VEGF injections in each eye.
Pedigree
| Age at visit: 47 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Thr307Ile ACC>ATC | AD |