Case
SR655
Student Mode
AD Optic Neuropathy (IIIC1a)
Female
Female
Hidden
SR655
Student Mode
AD Optic Neuropathy (IIIC1a)
Female
Female
History
This 21 year old woman had 20/40 vision in the 2nd grade. Her maternal grandfather has never been able to be corrected to better than 20/40.
Pedigree
| Age at visit: 21 years |
| Age at visit: 27 years |
| Age at visit: 30 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | OPA1 | Deletion Exons 28-31 | AD |