SR33

Pattern Dystrophy (IIC)

Female

Female

SR33

Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

Age at visit: 61 years
OD OS

History

This 61 year old woman has a chief complaint of mildly reduced visual acuity. She first noticed some distortion of her vision in both eyes at age 50. Her visual acuity was completely normal as a child and young adult.

Color Vision:     Correctly identified all 14 pseudoisochromatic plates OU
Refraction OD:     +0.50 +0.75 x 015
Refraction OS:     +0.75 +0.50 x 175

Pedigree

Teaching Points

The clinical features favoring the diagnosis of autosomal dominant pattern dystrophy in this patient include the large, bright yellow, reticular subretinal deposits, the relatively good visual acuity and the extensive autosomal dominant family history. Autosomal dominant macular dystrophies often have good acuity despite a fairly dramatic fundus appearance.

Age at visit: 37 years
Age at visit: 42 years
Age at visit: 49 years
Age at visit: 53 years
Age at visit: 57 years
Age at visit: 59 years
Age at visit: 61 years
Age at visit: 63 years
Age at visit: 66 years
Age at visit: 68 years
Age at visit: 70 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Gly167Asp GGC>GAC   AD
Gene:
Allele 1:
Gly167Asp GGC>GAC
Allele 2:
 
Inheritance:
AD
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