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

Roque D. Carrero-Valenzuela; Michael L. Klein; Richard G. Weleber; William H. Murphey; Michael Litt

doi:10.1001/archopht.1996.01100130729016

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

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

Ophthalmology

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

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 language	English (US)
Pages (from-to)	737-738
Number of pages	2
Journal	Archives of ophthalmology
Volume	114
Issue number	6
DOIs	https://doi.org/10.1001/archopht.1996.01100130729016
State	Published - Jan 1 1996

ASJC Scopus subject areas

Ophthalmology

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10.1001/archopht.1996.01100130729016

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title = "Sorsby fundus dystrophy: A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3",

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 = "Carrero-Valenzuela, {Roque D.} and Klein, {Michael L.} and Weleber, {Richard G.} and Murphey, {William H.} and Michael Litt",

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T2 - A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

AU - Carrero-Valenzuela, Roque D.

AU - Klein, Michael L.

AU - Weleber, Richard G.

AU - Murphey, William H.

AU - Litt, Michael

PY - 1996/1/1

Y1 - 1996/1/1

N2 - 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.

AB - 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.

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

Abstract

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