SR68

AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR68

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Age at visit: 57 years
OD OS

History

This 57 year old woman has had poorer night vision than her friends for her entire life. At age 51, her worsening night vision caused her to seek medical attention. She has always been correctable to 20/20 OU.

Color Vision:     14/14 pseudoisochromatic plates OU
Refraction OD:     -1.50 +1.00 x 158
Refraction OS:     -1.25 +1.00 x 027

Pedigree

Teaching Points

The clinical features supporting the diagnosis of autosomal dominant retinitis pigmentosa in this patient include: night blindness as her earliest symptom; an inferior sector of bone-spicule-like pigmentation and narrowed arterioles on fundus examination; a striking symmetrical superior visual field loss; loss of outer retinal structures on OCT; and, 2 similarly affected aunts, a brother and grandmother.

Age at visit: 52 years
Age at visit: 54 years
Age at visit: 57 years
Age at visit: 59 years
Age at visit: 62 years
Age at visit: 71 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Gly106Arg GGG>AGG   AD
Gene:
Allele 1:
Gly106Arg GGG>AGG
Allele 2:
 
Inheritance:
AD
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