ArticleCurrent issues in molecular biology2025
Retinal Dystrophies Associated with Mutations in the
Article in Current issues in molecular biology, 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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Who cites it
1 citing paper in PubMed.
- Genotype-phenotype correlations in retinitis pigmentosa: structural and vascular insights using OCT and OCTA.International journal of retina and vitreous · 2026Article
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Authors and funding
12 authors.
Funding
Abstract
backgroundWe evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with
methodsA retrospective, cross-sectional genotype-phenotype correlation study was conducted on a cohort of ten Italian patients (four males and six females) seen at Careggi University Hospital between 2012 and 2024, all affected by RP carrying pathogenic variants in the RP1 gene. A comprehensive ophthalmic assessment and pedigree analysis were performed, focusing on the onset of disease symptoms, the patient's age at first diagnosis, follow-up duration, and the presence of comorbidities.
resultsOur cohort included ten Italian patients with a mean age of 59 (range of 32-79 years). The median age when symptoms first presented was 43 years (range of 2-74), with a mean follow-up period of 9.3 ± 2.6 years. The main symptoms at presentation were hemeralopia and visual field constriction. Fundus examination revealed a classic RP phenotype. Fundus autofluorescence (FAF), optical coherence tomography (OCT), Electroretinogram (ERG), and visual field testing confirmed the typical features of classic retinitis pigmentosa in most cases.
conclusionsThis single-center cohort of Italian patients provides insights into the clinical and genetic characteristics of
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