This 43 year old woman has a chief complaint of reduced visual acuity OU. She first noticed some distortion of her vision in the left eye at age 25. A choroidal neovascular membrane was diagnosed at that time and treated with laser photocoagulation. The right eye developed similar symptoms at age 41.
Refraction OD:     | -3.25 +0.50 x 2 |
---|---|
Refraction OS:     | -2.50 +0.75 x 50 |
The clinical features favoring the diagnosis of Sorsby fundus dystrophy in this patient include choroidal neovascularization of the macula in the third decade of life; dark black pigment in the macula with an irregular outline; and, a similarly affected parent.
Age at visit: 43 years |
Age at visit: 48 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Sorsby Fundus Dystrophy | TIMP3 | Cys24Arg TGC>CGC | AD |