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Article

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

Investigative ophthalmology & visual science - 1 Apr 2015

Gliem Martin, Müller Philipp L, Mangold Elisabeth, Holz Frank G, Bolz Hanno J, Stöhr Heidi, Weber Bernhard H F, Charbel Issa Peter

Abstract excerpt

PURPOSE: To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a novel early sign for the disease and to report the effect of anti-VEGF therapy. METHODS: Twenty-one probands of three unrelated families with SFD were investigated using wide-field imaging, confocal laser scanning ophthalmoscopy with autofluorescence imaging, optical coherence...

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Source

Identifiers

PMID: 25766588
DOI: 10.1167/iovs.14-15733

Genes

TIMP3

Variants

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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