ArticleCureus2025
Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report.
Article in Cureus, 2025. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
3 authors.
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Abstract
We report a case of an 18-year-old Hispanic male patient with clinical features consistent with autosomal dominant optic atrophy (ADOA), including bilateral optic disc pallor, childhood color deficits, and visual field loss. The patient reported one year of progressive blurry vision; best-corrected visual acuity was measured at 20/30 in the right eye (OD) and 20/60 in the left eye (OS). Multimodal imaging revealed the expected structure-function pattern, with spectral-domain OCT demonstrating predominant retinal nerve fiber layer (RNFL) thinning and a preserved macular contour. Meanwhile, Humphrey's visual fields showed paracentral defects in the OD and a superior arcuate defect with inferior scotomas in the OS. Genetic testing identified a heterozygous
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