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Ophthalmology and Visual Sciences

Sorsby macular dystrophy

Sorsby macular dystrophy

Category(ies): Inherited Eye Disease, Retina
Contributor: Jesse Vislisel, MD
Photographer: Stefani Karakas, CRA

Sorsby macular dystrophy is an autosomal dominant condition caused by a mutation in the TIMP3 gene. Patients with this condition typically maintain normal acuity until their 40's when they develop severe, bilateral choroidal neovascular membranes. The macular lesions later have a "pseudo-inflammatory" appearance with geographic atrophy and dense clumps of black pigmentation, as seen in these photographs.