Sorsby fundus dystrophy: A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

Roque D. Carrero-Valenzuela, Michael Klein, Richard Weleber, William H. Murphey, Michael Litt

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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.

Original languageEnglish (US)
Pages (from-to)737-738
Number of pages2
JournalArchives of Ophthalmology
Volume114
Issue number6
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Ophthalmology

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