Sorsby fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation

Archives of Ophthalmology

Volumn 115, Issue 12, 1997, Pages 1569-1571

  Felbor, Ute ^a   Benkwitz, Claudia ^a   Klein, Michael L ^b   Greenberg, Jacquie ^c   Gregory, Cheryl Y ^d   Weber, Bernhard H F ^a,e  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EYE FUNDUS; GENE MUTATION; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL; RETINA MACULA HEMORRHAGE; RETINA MALFORMATION; REVIEW;

EID: 0031468856     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.1997.01100160739011     Document Type: Review

References (7)

1. Sorsby A, Mason MEJ, Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol. 1949;33:67-97.
2. Weber BHF, Vogt G, Pruett RC, Stöhr 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.
3. Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BHF. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet. 1997;60:57-62.
4. Felbor U, Stöhr H, Amann Th, et al. A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. J Med Genet. 1996;33:233-236.
5. Wijesuriya SD, Evans K, Jay MR, et al. Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotyes. Genome Res. 1996;6:92-101.
6. Carrero-Valenzuela RD, Klein ML, Weleber RG, Murphey WH, Litt M. Sorsby's fundus dystrophy: a family with the Ser181Cys mutation of TIMP3. Arch Ophthalmol. 1996;114:737-738.
7. Peters AL, Greenberg J. Sorsby's fundus dystrophy: a South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22. Retina. 1995;15:480-485.