Case
SR1789
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR1789
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
History
This 26 year old man failed a school vision test at age 11 and his vision was not correctable with glasses at that time. He was able to see 4 out of 14 color plates in the right eye and 12 out of 14 color plates in the left eye.
Pedigree
| Age at visit: 26 years |
| OD | |||
|---|---|---|---|
| Age at visit: 26 years (Visit 2) |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | OPA1 | Lys383Arg AAG>AGG | AD |