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Author

J. O'Byrne

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Review Open access Aug 2026

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies

Beyond ABCA4 and BEST1, IMDs exhibit substantial genetic and phenotypic heterogeneity, with low molecular diagnostic rates despite comprehensive sequencing approaches, and remain lower than pan-retinal IRD phenotypes.

Deirdre A Harford, Marcus Conway, Bridget Moran et al. · 0 citations

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