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Article

A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.

Ophthalmic genetics - 1 Oct 2020

DeBenedictis Meghan J, Gindzin Yosef, Glaab Enrico, Anand-Apte Bela

Abstract excerpt

BACKGROUND: Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the TIMP3 gene. Clinical exam findings typically drusen -like deposits beneath the RPE or reticular pseudo drusen deposits above the RPE with a majority of patients developing choroidal neovascularization. MATERIALS AND METHODS: Case report of two members of a family that present with atypical clinical exam...

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Identifiers

PMID: 32715858
DOI: 10.1080/13816810.2020.1795889
PMCID: PMC8118143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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