Case
SR2030
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR2030
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
History
This 59 year old woman first noticed difficulty seeing in dim light at age 19. Her visual field became progressively constricted and she lost all perception of light at age 58.
Pedigree
| Age at visit: 21 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 59 years |
| Age at visit: 61 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RHO | Pro347Ala CCG>GCG | AD |