Case
SR2429
Student Mode
Retinitis Pigmentosa with Ataxia (IB7)
Male
Male
Hidden
SR2429
Student Mode
Retinitis Pigmentosa with Ataxia (IB7)
Male
Male
Visit at age: 75 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/50
Exemplar
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Ataxia | ELOVL4 | Ile171Thr ATT>ACT | AD |
Disease:
Gene:
Allele 1:
Ile171Thr ATT>ACT
Allele 2:
Inheritance:
AD