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Article

Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.

Archivos de la Sociedad Espanola de Oftalmologia - 1 Apr 2017

Montecinos-Contreras C, Sepúlveda-Vázquez H E, Pelcastre-Luna E, Zenteno J C, Villanueva-Mendoza C

Abstract excerpt

OBJECTIVE: To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4. CASE REPORT: The proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripheral avascular zone and macular dragging, consistent with FEVR. Molecular analysis demonstrated a mutation of FZD4 in DNA...

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Source

Identifiers

PMID: 27746066
DOI: 10.1016/j.oftal.2016.08.003

Genes

FZD4

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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