ReviewMolecular vision2025
The genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review.
Review in Molecular vision, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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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.
The trial behind it
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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Authors and funding
6 authors.
Funding
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Abstract
Purpose: Retinitis pigmentosa (RP) is an inherited heterogeneous neurodegenerative retinal disease leading to blindness eventually. Currently, a large number of studies have explored its heterogeneity, but the genotype-phenotype correlation remains unclear. The present study aimed to explore genetic mutations and the correlation between genotype-phenotype in three RP families from the Chinese Han population. Methods: Genomic DNA was obtained from peripheral blood samples of patients and their relatives and subjected to whole-exome and Sanger sequencing. The corresponding visual acuity and fundus examinations were also performed, including fundus photography and ophthalmologic examinations. Results: In this study, three novel variants, including Conclusions: This study laid the foundation for prenatal diagnosis of RP in three family pedigrees, offering a comprehensive understanding of the genetic and clinical characteristics of patients with RP, which provided theoretical support for addressing complex genetic heterogeneity to enable accurate prenatal screening and diagnosis, early detection, and treatment of RP.
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Identifiers
41867381PMC13002339What OpenQuestion holds
Registered trials
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