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Article

<i>XXYLT1</i> and Mendelian Retinal Dystrophy

30 Jul 2026

Abstract excerpt

Importance: Substantial unexplained heritability remains for pathogenic inherited retinal disease (IRD) variants. Application of genome-wide association studies (GWAS) could help identify causal genes in rare diseases. Objective: To leverage a GWAS for the discovery of IRD-associated genes. Design, Setting, and Participants: This GWAS analysis was combined with replication of findings in 2 independent IRD...

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PMID: 42530953
DOI: 10.1001/jamaophthalmol.2026.2795

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