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Article

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

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Dec 1997

Felbor U, Benkwitz C, Klein M L, Greenberg J, Gregory C Y, Weber B H

Abstract excerpt

Interfamilial phenotypic variations in Sorsby fundus dystrophy (SFD) have given rise to controversy as to whether SFD constitutes more than 1 nosologic entity. The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene causing SFD has made it possible to readdress the question of genetic and clinical heterogeneity. In this study, we have extended previous findings on a Ser181Cys...

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Source

Identifiers

PMID: 9400791
DOI: 10.1001/archopht.1997.01100160739011

Genes

TIMP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation.PMID 9400791Read ↗

[Sorsby's fundus dystrophy. A genetically homogeneous disease].Semantic proximity Read ↗

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.Semantic proximity Read ↗

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TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.Semantic proximity Read ↗

A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.Semantic proximity Read ↗

A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.Semantic proximity Read ↗

Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix.Semantic proximity Read ↗

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