SR117
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
SR117
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 48 years
Fundus Photography - Right - <1/700 sc
Exemplar
Fundus Photography - Left - <1/700 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CDHR1 | Gln175 ins1cA | Gln175 ins1cA | AR |
Disease:
Gene:
Allele 1:
Gln175 ins1cA
Allele 2:
Gln175 ins1cA
Inheritance:
AR