ArticleAmerican journal of ophthalmology case reports2025
Article in American journal of ophthalmology case reports, 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
5 authors.
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Abstract
Purpose: To report a series of genetically confirmed cone and cone-rod dystrophy cases associated with POC1 Centriolar Protein B ( Observations: In the first family, three affected siblings had a homozygous nonsense variant in POC1B (NM_172240.3:c.672C > G; p.Tyr224∗), classified as pathogenic. Two of these cases presented with bilateral optic disc swelling confirmed by fundus examination and optical coherence tomography, accompanied by features consistent with cone dysfunction on full-field ERG. In the second family, three affected siblings carried a homozygous frameshift variant in POC1B (NM_172240.3:c.991del; p.Arg331Glufs∗13), also classified as pathogenic. These patients demonstrated early-onset visual loss, photophobia, and cone dysfunction without optic disc swelling. All identified variants were consistent with autosomal recessive inheritance and validated by Sanger sequencing. Conclusions and importance: Bilateral optic disc swelling is a rare manifestation in COD/CORD and is rarely reported in association with
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