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Active filtersEntity: Leber congenital amaurosis ×

Leber congenital amaurosis

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Leber congenital amaurosis1

Articles mentioning Leber congenital amaurosis

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#ECR-Paper-03 VESPAR: quantitative analysis of the retinal vasculature using a novel segmentation algorithm to enable gene-phenotype association studies in a cohort of 3,944 patients with inherited retinal diseases

bmjophth · abstract · 2025-10-10 · 1 matching annotations

94.0%

ABCA4 Leber congenital amaurosis Retinitis pigmentosa PRPH2 optic atrophy choroideremia OPA1 macular dystrophy IRDs Oxford Eye Hospital+6 more

…ensity (12.4%) than the macular dystrophy phenotype (15.6%). In ABCA4, the most severe phenotype and genotype groups had significantl…