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 |
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 (Visit 2) |
Age at visit: 46 years |
OD | OS | ||
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Pattern Dystrophy | PRPH2 | IVS2+3 A>T | AD |