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Article

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

Investigative ophthalmology & visual science - 1 Sept 2009

Boonstra F Nienke, van Nouhuys C Erik, Schuil José, de Wijs Ilse J, van der Donk Kim P, Nikopoulos Kostas, Mukhopadhyay Arijit, Scheffer Hans, Tilanus Mauk A D, Cremers Frans P M, Hoefsloot Lies H

Abstract excerpt

PURPOSE: To describe the ophthalmic characteristics and to identify the molecular cause of FEVR in a cohort of Dutch probands and their family members. METHODS: Twenty families with familial exudative vitreoretinopathy (FEVR) comprising 83 affected and nonaffected individuals were studied. Based on the presence of an avascular zone, the clinical diagnosis was made and biometric data of the posterior pole of 57...

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Source

Identifiers

PMID: 19324841
DOI: 10.1167/iovs.08-3320

Genes

FZD4
LRP5
NDP

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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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