Diseases · Entity Annotation Prototype (beta)

3articles mentioning diseases

4disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: optic atrophy ×

optic atrophy

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optic atrophy3

Articles mentioning optic atrophy

3 articles · page 1 of 1

GAPO syndrome: a comprehensive examination and review of 105 clinical cases

jmedgenet · abstract · 2025-12-25 · 2 matching annotations

84.9%

Growth retardation optic atrophy GAPO syndrome pseudoanodontia targeted therapies

…Growth retardation, alopecia, pseudoanodontia and optic atrophy (GAPO) syndrome is…

P22 A scoping review of diabetes technologies used in wolfram syndrome

jmedgenet · abstract · 2026-01-28 · 1 matching annotations

78.3%

Wolfram syndrome diabetes insipidus WSIDD type 1 diabetes optic atrophy insulin-dependent diabetes PubMed Web of Science Embase MEDLINE+2 more

…ham from inception to May 2025. The search terms applied were: ‘Wolfram syndrome’, ‘insulin pump’ and ‘continuous glucose monitoring’, with the …

#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

79.3%

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…