SR154
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
SR154
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 35 years
Fundus Photography - Right - 20/20 +2
Exemplar
Fundus Photography - Left - 20/20 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Glu767 del1tgtG | Cys759Phe TGC>TTC | AR |
Disease:
Gene:
Allele 1:
Glu767 del1tgtG
Allele 2:
Cys759Phe TGC>TTC
Inheritance:
AR