Case
SR549
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR549
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
History
This 13 year old female was experiencing frequent headaches and visited an ophthalmologist to see if her vision was the cause.
Pedigree
| Age at visit: 13 years |
| Age at visit: 15 years |
| Age at visit: 17 years |
| Age at visit: 18 years |
| Age at visit: 20 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RHO | Ala166Asp GCC>GAC | AD |