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Article

Sorsby fundus dystrophy: Insights from the past and looking to the future.

Journal of neuroscience research - 1 Jan 2019

Anand-Apte Bela, Chao Jennifer R, Singh Ruchira, Stöhr Heidi

Abstract excerpt

Sorsby fundus dystrophy (SFD), an autosomal dominant, fully penetrant, degenerative disease of the macula, is manifested by symptoms of night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization (CNV). SFD is caused by specific mutations in the Tissue Inhibitor of Metalloproteinase-3, (TIMP3) gene. The predominant histo-pathological feature...

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Source

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Identifiers

PMID: 30129971
DOI: 10.1002/jnr.24317
PMCID: PMC6241301

Genes

TIMP3
RPE

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.

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Sorsby fundus dystrophy: Insights from the past and looking to the future.PMID 30129971Read ↗

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Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism.Semantic proximity Read ↗

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.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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