Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

doi:10.3390/genes17080979

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Article

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Genes - 20 Aug 2026

Harford Deirdre, Conway Marcus, Moran Bridget, Zhu Julia, Turner Jacqueline, Dockery Adrian, O'Byrne James J, Flitcroft D Ian, Burke Tomás, Stephenson Kirk A J, Farrar G Jane, Keegan David J

Abstract excerpt

BACKGROUND/OBJECTIVES: To describe the genetic resolution rate, molecular findings, and genotype-phenotype correlations of non-ABCA4 and non-BEST1 inherited macular dystrophies (IMDs) within an Irish inherited retinal disease (IRD) registry. METHODS: Retrospective review of individuals with a clinical diagnosis of macular or cone dystrophy. Comprehensive phenotyping (dilated ocular biomicroscopy, multimodal...