Article
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR.
Journal of medical genetics - 20 Feb 2026
Sun Dong, Henderson Robert H, Clement Emma, Michaelides Michel, Kalitzeos Angelos, Wright Genevieve A, Mcloone Eibhlin, Inglehearn Chris, Poulter James A, Toomes Carmel
Abstract excerpt
BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still a substantial number of genetically unsolved cases. The aim of this study was to analyse whole genome sequencing (WGS) data from the FEVR cases in the Genomics England (GEL) 100 000 genomes...
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