Case
SR2290
Student Mode
Sorsby Fundus Dystrophy (IIH)
Male
Male
Hidden
SR2290
Student Mode
Sorsby Fundus Dystrophy (IIH)
Male
Male
History
This 42 year old man first sought medical attention for night blindness at age 26.
Pedigree
| Age at visit: 26 years |
| OD | |||
|---|---|---|---|
| Age at visit: 65 years |
| Age at visit: 65 years (Visit 2) |
| Age at visit: 65 years (Visit 3) |
| Age at visit: 66 years (Visit 2) |
| Age at visit: 67 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Sorsby Fundus Dystrophy | TIMP3 | Tyr191Cys TAC>TGC | AD |