Case
SR2324
Student Mode
Sorsby Fundus Dystrophy (IIH)
Female
Female
Hidden
SR2324
Student Mode
Sorsby Fundus Dystrophy (IIH)
Female
Female
Highlighted Images
| Age at visit: 36 years | |
| OD | OS |
|---|---|
History
This 36 year old asymptomatic woman was noted to have fundus abnormalities on a routine eye exam earlier this year.
Pedigree
| Age at visit: 36 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Sorsby Fundus Dystrophy | TIMP3 | Ser204Cys AGC>TGC | AD |