ArticleFrontiers in medicine2025
Clinical and genetic features of
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Achromatopsia (ACHM) is a rare genetic disorder with an infantile onset that affects cone photoreceptors. This study aims to provide a comprehensive phenotyping of the retinal structure and identify novel genetic variants in a preschool cohort with ACHM in China. Methods: We recruited patients with pathogenic genes ( Results: Nystagmus (46.13%) and photophobia (46.13%) were the most common initial complaints/reports from parents of our patients. These symptoms are easily noticed early (mean age 0.88 ± 1.07 years at onset of initial symptom). OCT revealed a wide range of degeneration in the outer retina of the fovea, exactly in the interdigitation zone (IZ) and ellipsoid zone (EZ). Retinal outer layer damage was observed in 18 eyes (9 patients), with the modified classification distribution: grade 1 in 1 eye (5.6%), grade 2 in 9 eyes (50.0%), and grade 3 in 8 eyes (44.4%). Eleven novel variants of CNAG3 were identified. The higher grade of outer retinal layer damage was shown in patients with genetic variants, potentially leading to structural changes in the cyclic guanosine monophosphate (cGMP) binding site of the synthesized protein ( Conclusion: ACHM can manifest at very early stages of life. Mild damage to the outer layers of the retina is a typical change in early-stage ACHM. Patients with genetic variants potentially leading to structural changes in the cGMP binding site of the synthesized protein tend to exhibit more severe retinal phenotypes. Ultimately, our research may aid in formulating guidelines for selecting patients and determining the optimal timing for interventions in upcoming gene replacement therapies.
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