Case
SR646
Student Mode
AR Optic Neuropathy (IIIC2b)
Female
Female
Hidden
SR646
Student Mode
AR Optic Neuropathy (IIIC2b)
Female
Female
| Age at visit: 9 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 10 years |
| OS | |||
|---|---|---|---|
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 17 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Optic Neuropathy | ACO2 | Leu738Pro CTG>CCG | Ile82Thr ATT>ACT | AR |
Disease:
Gene:
Allele 1:
Leu738Pro CTG>CCG
Allele 2:
Ile82Thr ATT>ACT
Inheritance:
AR