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

Archives of Ophthalmology

Volumn 114, Issue 6, 1996, Pages 737-738

  Carrero Valenzuela, Roque D ^a   Klein, Michael L ^b   Weleber, Richard G ^a,b   Murphey, William H ^b   Litt, Michael ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STROMELYSIN; TISSUE INHIBITOR OF METALLOPROTEINASE;

ADULT; ARTICLE; CASE REPORT; DARK ADAPTATION; DRUSEN; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; HUMAN; OPHTHALMOSCOPY; PEDIGREE; PRIORITY JOURNAL; SUBRETINAL NEOVASCULARIZATION; VISUAL IMPAIRMENT;

EID: 0029947143     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.1996.01100130729016     Document Type: Article

References (2)

1. Weber BHF, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet. 1994;8:352-356.
2. Polkinghorne PJ, Capon MRC, Berninger T, Lyness AL, Sehmi K, Bird AC. Sorsby's fundus dystrophy: a clinical study. Ophthalmology. 1989;96:1763-1768.