SR1833

AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR1833

AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Highlighted Images

Age at visit: 37 years
OD OS

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
Age at visit: 37 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
Gene:
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg437Stop AGA>TGA
Inheritance:
AR
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