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Active filtersEntity: choroideremia ×

choroideremia

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choroideremia2

Articles mentioning choroideremia

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Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants

bjophthalmol · abstract · 2025-07-22 · 3 matching annotations

94.6%

Usher syndrome X-linked retinoschisis cone or cone-rod dystrophy choroideremia retinitis pigmentosa macular dystrophy severe early childhood-onset retinal dystrophy congenital stationary night blindness retinoschisis IRD

…pigmentosa, 25.3/100 000; X-linked retinoschisis, 10.7/100 000; Usher syndrome, 8.9/100 000; choroideremia, 7/100 000 and cone or cone-rod dys…

#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

79.1%

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…