Case
SR123
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR123
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 46 year old man has had poor vision in dim light since age 2.
Pedigree
| Age at visit: 51 years |
| Age at visit: 57 years |
| Age at visit: 60 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | SLC24A1 | Met252 del2ggaAT | Leu1052 del2ctTC | AR |
Disease:
Gene:
Allele 1:
Met252 del2ggaAT
Allele 2:
Leu1052 del2ctTC
Inheritance:
AR