ArticleCureus2023
A New Variant in the PRPF6 Gene Leading to Retinitis Pigmentosa: A Case Report.
Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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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Who cites it
3 citing papers in PubMed, 1 citations in OpenAlex.
- A Novel N-TerminalClinical case reports · 2026Article
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Rod-cone dystrophy with myriad systemic manifestations.Oman journal of ophthalmologyArticle
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a case of a 34-year-old Hispanic female patient with a medical history of diabetes mellitus, thyroid disease, and cataract surgery in the right eye, who was evaluated due to progressive vision loss in both eyes. The patient had waxy pallor of the optic disc, vessel attenuation, retinal pigment epithelium (RPE) degeneration, and bony spicules OU. These findings are compatible with a diagnosis of retinitis pigmentosa (RP). Gene sequencing and deletion/duplication analysis were performed. The patient was positive for a heterozygous mutation in the
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Registered trials
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