SR42

Pattern Dystrophy (IIC)

Female

Female

SR42

Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

Age at visit: 38 years (Visit 2)
OD OS

History

This 38 year old woman has a chief complaint of mildly reduced visual acuity. She first noticed some distortion of her vision in both eyes a few months ago. She also reports some reduction in her acuity when she moves from bright environments to dim ones although her acuity eventually returns to normal after a several minute delay. Her visual acuity was completely normal as a child and young adult.

Color Vision:     Correctly identified all 14 pseudoisochromatic plates OU
Refraction OD:     -0.75 +0.25 x 087
Refraction OS:     -0.50 +0.25 x 083

Pedigree

Teaching Points

The clinical features favoring the diagnosis of autosomal dominant pattern dystrophy in this patient include the numerous yellow flecks in the macula and mid-periphery, the dark green color of the most central flecks, 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: 38 years
Age at visit: 38 years (Visit 2)
Age at visit: 44 years
Age at visit: 46 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 IVS2+3 A>T   AD
Gene:
Allele 1:
IVS2+3 A>T
Allele 2:
 
Inheritance:
AD
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