This 52 year old woman has experienced a gradual reduction in visual acuity and night vision over the past 2 years. A review of her medical history reveals gastric bypass surgery 15 years ago. Her father and sibling were affected with wet macular degeneration in their 40's.
Age at visit: 52 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Sorsby Fundus Dystrophy | TIMP3 | Ser38Cys TCC>TGC | AD |