SR182

AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR182

AD Retinitis Pigmentosa (IA1aii)

Male

Male

Highlighted Images

Age at visit: 22 years
OD OS

History

This 22 year old man has had poor night vision since childhood. More recently he feels that his peripheral vision is somewhat constricted.

Pedigree

Age at visit: 22 years
Age at visit: 24 years
Age at visit: 26 years
Age at visit: 28 years
Age at visit: 30 years
Age at visit: 32 years
Age at visit: 35 years
Age at visit: 39 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Pro23His CCC>CAC   AD
Gene:
Allele 1:
Pro23His CCC>CAC
Allele 2:
 
Inheritance:
AD
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