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Article

Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.

Journal of pediatric ophthalmology and strabismus - 30 Jul 2016

Pefkianaki Maria, Hasanreisoglu Murat, Suchy Sharon F, Shields Carol L

Abstract excerpt

This report reviews the genetics of familial exudative vitreoretinopathy (FEVR) and describes the identification of a novel variant in the LRP5 gene. A 20-month-old boy presented with reduced visual acuity in the right eye from exudative retinal detachment with mild retinal traction. Fluorescein angiography in the right eye disclosed extensive peripheral retinal non-perfusion and telangiectatic vessels and the...

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Source

Identifiers

PMID: 27486893
DOI: 10.3928/01913913-20160719-02

Genes

LRP5
FZD4
NDP
TSPAN12

Variants

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.

Related research

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Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.PMID 27486893Read ↗

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Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

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Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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