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Article

Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.

Clinical & experimental ophthalmology - 1 May 2022

Zhao Rulian, Wang Shiyuan, Zhao Peiquan, Dai Erkuan, Zhang Xiang, Peng Li, He Yunqi, Yang Mu, Li Shujin, Yang Zhenglin

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is an inherited ocular disease with clinical manifestations of aberrant retinal vasculature. We aimed to identify novel causative variants responsible for FEVR and provided evidence for the genetic counselling of FEVR. METHODS: We applied whole-exome sequencing (WES) on the genomic DNA samples from the probands and performed Sanger sequencing for variant...

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PMID: 35133048
DOI: 10.1111/ceo.14037

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