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Sorsby Fundus DystrophyA Family With the Ser181Cys Mutation of the Tissue Inhibitor of Metalloproteinases 3
Roque D. Carrero-Valenzuela, MD, PhD;
Michael L. Klein, MD;
Richard G. Weleber, MD;
William H. Murphey, PhD;
Michael Litt, PhD
Arch Ophthalmol. 1996;114(6):737-738.
Abstract
SORSBY FUNDUS dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.
Author Affiliations
From the Departments of Molecular and Medical Genetics (Drs Carrero-Valenzuela, Weleber, and Litt), Ophthalmology (Drs Klein, Weleber, and Murphey), and Biochemistry (Dr Litt), Oregon Health Sciences University, Portland.
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