ArticleInvestigative ophthalmology & visual science2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Article in Investigative ophthalmology & visual science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.European journal of human genetics : EJHG · 2026Article
- Ultra-Widefield Fluorescein Angiography Findings in Patients With Retinitis Pigmentosa.Journal of vitreoretinal diseases · 2026Article
- Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novelFrontiers in genetics · 2026Article
- Characterizing the non-pigmented retinitis pigmentosa in a Chinese cohort: Insights into phenotype, genotype, and disease progression.Advances in ophthalmology practice and researchArticle
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14 authors.
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Abstract
Purpose: To investigate the prevalence of cystoid macular edema (CME) in relation to the disease-causing genes in a large cohort of genetically defined patients with non-syndromic retinitis pigmentosa (RP). Methods: Spectral-domain optical coherence tomography (SD-OCT) imaging has been retrospectively reviewed in order to assess the presence of CME over the disease course in a cohort of 580 patients with a clinical and genetic diagnosis of non-syndromic RP. Results: Over the course of the disease, 179 patients (30.9%) developed CME in at least one eye. Based on the patients' genotypes, we found a statistically significant difference in CME prevalence according to the inheritance pattern (P < 0.001), with autosomal dominant forms being more frequently associated with CME (51.4%), followed by autosomal recessive forms (28.1%), but CME was rarely observed in X-linked RP (7.5%). By analyzing the most recurrent causative genes, we found the highest prevalence of CME in patients with autosomal dominant RP forms due to variants in RHO (58.2%), PRPF8 (72.7%), and PRPF3 (75.0%), whereas the lowest prevalence was observed in X-linked cases with mutations in RP2 (3.4%) and RPGR (8.8%). Conclusions: This study revealed a strong association of CME with the underlying causative gene in non-syndromic RP in the largest genotyped cohort so far reported, adding new insights in the etiopathogenesis of CME in RP. Our findings emphasize the importance of SD-OCT morphological assessments of RP patients both to improve disease management and to better explore genotype-phenotype correlations.
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