Case
SR1833
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR1833
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 37 year old man has had poor night vision since childhood. In his early 30's he felt that his peripheral vision was becoming constricted.
Pedigree
| Age at visit: 33 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | FAM161A | Arg437Stop AGA>TGA | Arg437Stop AGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg437Stop AGA>TGA
Inheritance:
AR