Case
SR1791
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR1791
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Highlighted Images
| Age at visit: 14 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 6 years |
| OD | |||
|---|---|---|---|
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | ACO2 | Ser274 ins1tC | AD |