Case
SR816
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR816
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 51 year old woman first noticed difficulty seeing in the dark in her mid 30's.
Pedigree
| Age at visit: 43 years |
| Age at visit: 44 years |
| Age at visit: 47 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA | Thr4337Met ACG>ATG | AR |
Disease:
Gene:
Allele 1:
Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA
Allele 2:
Thr4337Met ACG>ATG
Inheritance:
AR