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LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION.

Retina (Philadelphia, Pa.) - 1 Oct 2022

Chen Chunli, Zhang Xiang, Peng Xiaoyan, Hu Feng, Cheng Yizhe, Zhao Peiquan

Abstract excerpt

PURPOSE: To analyze the clinical features of LRP5 gene mutation-related familial exudative vitreoretinopathy and explore the potential phenotype-genotype correlation on LRP5 gene. METHODS: Eighty-seven familial exudative vitreoretinopathy (FEVR) families with LRP5 mutations were selected from 722 FEVR patients, which were divided into 2 groups, including 22 autosomal-recessive FEVR (ar-FEVR) families and 65...

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PMID: 36018796
DOI: 10.1097/IAE.0000000000003543

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