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Article

XXYLT1 and Mendelian Retinal Dystrophy.

JAMA ophthalmology - 1 Sept 2026

Kraatari-Tiri Minna, Ishtiaq Hina, Tyrmi Jaakko, Lin Siying, Valkama Andriana, Tiirikka Timo, Äikäs Sara, Lähteenoja Laura, Wright Genevieve, Schiff Elena, Jestin Aleksandr, Webster Andrew R, Mahroo Omar A, Michaelides Michel, Moilanen Jukka, Pylkäs Katri, Kettunen Johannes, Arno Gavin, Falck Aura, Mantere Tuomo, Rahikkala Elisa

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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Identifiers

PMID: 42530953
DOI: 10.1001/jamaophthalmol.2026.2795
PMCID: PMC13425242

Genes

XXYLT1
CBLN4
DYM

Variants

Provenance

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