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Article

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.

Molecular vision - 1 Jan 2017

Huang Xiao-Yan, Zhuang Hong, Wu Ji-Hong, Li Jian-Kang, Hu Fang-Yuan, Zheng Yu, Tellier Laurent Christian Asker M, Zhang Sheng-Hai, Gao Feng-Juan, Zhang Jian-Guo, Xu Ge-Zhi

Abstract excerpt

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a...

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Share to Eye Diseases, Hereditary
Share to Familial Exudative Vitreoretinopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Low Density Lipoprotein Receptor-Related Protein-5

Share to Mutation, Missense

Share to Real-Time Polymerase Chain Reaction

Share to Retinal Diseases

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Share to Tetraspanins

Source

Open in PubMed Open full text

Identifiers

PMID: 28867931
PMCID: PMC5568910

Genes

LRP5
TSPAN12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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