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Article

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

PLoS genetics - 1 Feb 2026

Brock Daniel C, Dhindsa Justin S, Chen Yifan, Ravanmehr Vida, Mitchell Jonathan, Hu Fengyuan, Li Xiaoyin, Nandigam Likhita, Wang Quanli, Wu Kevin, Butts Jessica C, Dhindsa Hardeep S, Frankfort Benjamin J, Tran Nicholas M, Petrovski Slavé, Dhindsa Ryan S

Abstract excerpt

Retinal detachment (RD) is a sight-threatening emergency requiring urgent intervention to prevent permanent vision loss. While both environmental and genetic risk factors contribute to RD, its complete genetic architecture remains unknown. Here, we performed the largest whole genome sequencing-based case-control study in RD to date, including data from 7,276 RD cases and 236,741 controls in the UK Biobank....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Heterozygote

Share to Homeodomain Proteins

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Retinal Detachment

Source

Open in PubMed Open full text

Identifiers

PMID: 41632798
DOI: 10.1371/journal.pgen.1012027
PMCID: PMC12890223

Genes

VSX2
COL2A1
FAT3
RDH5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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