SR23

Sorsby Fundus Dystrophy (IIH)

Female

Female

SR23

Sorsby Fundus Dystrophy (IIH)

Female

Female

Highlighted Images

Age at visit: 43 years
OD OS

History

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

Pedigree

Teaching Points

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: 43 years (Visit 2)
Age at visit: 48 years
Age at visit: 54 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Sorsby Fundus Dystrophy TIMP3 Cys24Arg TGC>CGC   AD
Gene:
Allele 1:
Cys24Arg TGC>CGC
Allele 2:
 
Inheritance:
AD
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