Case
SR2324
Student Mode
Sorsby Fundus Dystrophy (IIH)
Female
Female
Hidden
SR2324
Student Mode
Sorsby Fundus Dystrophy (IIH)
Female
Female
Visit at age: 36 years
Fundus Photography - Right - 20/15 -1 sc
Exemplar
Fundus Photography - Left - 20/15 -1 sc
Exemplar
Fundus Montage - Right - 20/15 -1 sc
Exemplar
Fundus Montage - Left - 20/15 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/15 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/15 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Sorsby Fundus Dystrophy | TIMP3 | Ser204Cys AGC>TGC | AD |