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