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Article

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

American journal of human genetics - 1 Nov 2004

Jiao Xiaodong, Ventruto Valerio, Trese Michael T, Shastry Barkur S, Hejtmancik J Fielding

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body. Autosomal recessive FEVR was diagnosed in multiple individuals from three consanguineous families of European descent. A candidate-locus-directed genome scan shows linkage to the region on chromosome 11q flanked by markers D11S905 and D11S1314. The maximum LOD score of 3.6 at theta =0 is...

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Source

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Identifiers

PMID: 15346351
DOI: 10.1086/425080
PMCID: PMC1182117

Genes

LRP5
FZD4

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.PMID 15346351Read ↗

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

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

Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.Semantic proximity Read ↗

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Semantic proximity Read ↗

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Familial Exudative VitreoretinopathySemantic proximity Read ↗

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.Semantic proximity Read ↗

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Semantic proximity Read ↗

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