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Article

[Sorsby's fundus dystrophy. A genetically homogeneous disease].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 May 1998

Felbor U, Weber B H

Abstract excerpt

BACKGROUND: The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene underlying SFD pathology has made it possible to address the question of genetic heterogeneity in this disorder. In addition, it now has become feasible to clarify whether SFD is directly involved in other maculopathies and, in particular, may represent a genetic model for age-related macular degeneration....

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Share to Chromosome Aberrations
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, Dominant

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Source

Identifiers

PMID: 9643018
DOI: 10.1007/s003470050274

Genes

TIMP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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[Sorsby's fundus dystrophy. A genetically homogeneous disease].PMID 9643018Read ↗

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Sorsby fundus dystrophy: Insights from the past and looking to the future.Semantic proximity Read ↗

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A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.Semantic proximity Read ↗

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.Semantic proximity Read ↗

Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism.Semantic proximity Read ↗

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

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Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.Semantic proximity Read ↗

Sorsby fundus dystrophy (SFD): A narrative review.Semantic proximity Read ↗

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