SR58

AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR58

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Age at visit: 53 years
OD OS

History

This 53 year old woman has had poorer night vision than her friends for her entire life. At age 15, her worsening night vision caused her to seek medical attention.

Pedigree

Teaching Points

The clinical features supporting the diagnosis of autosomal dominant retinitis pigmentosa in this patient include: adult onset; night blindness as her earliest symptom; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; progressive visual field constriction; loss of outer retinal structures on OCT; and, several affected relatives in three different generations with clear male to male transmission.

Age at visit: 21 years
Age at visit: 47 years
Age at visit: 49 years
Age at visit: 51 years
Age at visit: 53 years
Age at visit: 54 years
Age at visit: 56 years
Age at visit: 57 years
Age at visit: 57 years (Visit 2)
Age at visit: 58 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Pro347Ala CCG>GCG   AD
Gene:
Allele 1:
Pro347Ala CCG>GCG
Allele 2:
 
Inheritance:
AD
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