ArticleCureus2025
Differences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes.
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
Background Patients with Hermansky-Pudlak syndrome (HPS) typically present with a triad comprising tyrosinase-positive oculocutaneous albinism, a tendency to bleed easily, and ceroid accumulation in multiple tissues. Ocular findings in patients with HPS include poor vision, refractive errors, photophobia, periodic alternating nystagmus, iris transillumination, foveal hypoplasia, and albinotic mid-peripheral retina. Among these, foveal hypoplasia and reduced foveal thickness are key structural abnormalities contributing to impaired visual acuity. While HPS is rare worldwide, its prevalence in Puerto Rico is notably high due to founder mutations in
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