Familial exudative vitreoretinopathy (FEVR) is a blinding disorder caused by abnormal development of retinal blood vessels. This study reanalyses whole genome sequence data from 59 individuals with FEVR in the UK 100,000 Genomes Project (100KGP). Bespoke analysis led to molecular diagnoses in 39%, almost doubling the diagnostic success of standard analyses. New cases solved include three with variants in CTNND1, a gene previously only tentatively implicated in FEVR, as well as novel structural and splicing variants in known FEVR genes. Three cases were also identified with pathogenic variants in genes implicated in other retinal disorders, suggesting these may be misdiagnosed. (By Dr. Dong Sun, https://jmg.bmj.com/content/early/2025/12/17/jmg-2025-111083 )