Case
SR2273
Student Mode
Sorsby Fundus Dystrophy (IIH)
Female
Female
Hidden
SR2273
Student Mode
Sorsby Fundus Dystrophy (IIH)
Female
Female
History
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.
Pedigree
| Age at visit: 52 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Sorsby Fundus Dystrophy | TIMP3 | Ser38Cys TCC>TGC | AD |