ArticleOphthalmology science2026
Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel
Article in Ophthalmology science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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18 authors.
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Abstract
Purpose: Dominant optic atrophy (DOA) is a rare disease characterized by the chronic loss of retinal ganglion cells that transduce the visual information from the retina to the brain. Dominant optic atrophy shows interfamilial and intrafamilial phenotypic variations and a restricted 35% molecular diagnosis, with half presenting a pathogenic variant in optic atrophy 1 ( Design: Retrospective, longitudinal cohort study of a family from the Western part of France. Participants: Thirty-nine individuals were included, 34 patients harboring a novel Methods: Main Outcome Measures: Best-corrected visual acuity, RNFL and GCL thickness at first and follow-up examinations. Correlations between morphological and functional measurements. Results: We disclosed the largest ever identified DOA family, with 64 nonsyndromic patients for whom we discovered a novel 10-kb deletion encompassing Conclusion: The identification of a large Financial Disclosures: The authors have no proprietary or commercial interest in any materials discussed in this article.
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