SR124
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
SR124
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 30 year old woman has experienced a progressive decrease in her vision over the last 5 years.
Pedigree
| Age at visit: 30 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | ABHD12 | IVS12-1 G>T | IVS12-1 G>T | AR |
Disease:
Gene:
Allele 1:
IVS12-1 G>T
Allele 2:
IVS12-1 G>T
Inheritance:
AR