Case
SR1297
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR1297
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
History
This 60 year old woman first noticed some difficulty seeing in dim light when she was 50 years old.
Pedigree
| Age at visit: 55 years |
| Age at visit: 60 years |
| Age at visit: 61 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RP1 | Asp730 del3gACCins2gTA | AD |
Disease:
Gene:
Allele 1:
Asp730 del3gACCins2gTA
Allele 2:
Inheritance:
AD