Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.
Sorbsy 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.
Carrero-Valenzuela
R D
RD
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA.
Klein
M L
ML
Weleber
R G
RG
Murphey
W H
WH
Litt
M
M
D000328:Adult; D000368:Aged; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004247:DNA / Q000032:analysis; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008268:Macular Degeneration / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D012694:Serine / Q000235:genetics; D019717:Tissue Inhibitor of Metalloproteinase-3
D011506:Proteins; D019717:Tissue Inhibitor of Metalloproteinase-3; D012694:Serine; D004247:DNA; D003545:Cysteine