| Title: |
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort |
| Authors: |
Testa, Francesco; Karali, Marianthi; Boccia, Rosa; Pisani, Danila; Damiano, Luciana; Nicolò, Antonio; Madonna, Emanuele; De Rosa, Luigi; Colucci, Raffaella; De Benedictis, Antonella; Di Iorio, Valentina; Melillo, Paolo; Banfi, Sandro; Simonelli, Francesca |
| Contributors: |
Testa, Francesco; Karali, Marianthi; Boccia, Rosa; Pisani, Danila; Damiano, Luciana; Nicolò, Antonio; Madonna, Emanuele; De Rosa, Luigi; Colucci, Raffaella; De Benedictis, Antonella; Di Iorio, Valentina; Melillo, Paolo; Banfi, Sandro; Simonelli, Francesca |
| Publication Year: |
2025 |
| Collection: |
Università degli Studi di Ferrara: CINECA IRIS |
| Subject Terms: |
causative gene; cystoid macular edema (CME); large cohort; non-syndromic retinitis pigmentosa |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
STAMPA |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/40900079; info:eu-repo/semantics/altIdentifier/wos/WOS:001583357400015; volume:66; issue:12; firstpage:5-1; lastpage:5-9; numberofpages:9; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; https://hdl.handle.net/11392/2604971; https://iovs.arvojournals.org/article.aspx?articleid=2810772 |
| DOI: |
10.1167/iovs.66.12.5 |
| Availability: |
https://hdl.handle.net/11392/2604971; https://doi.org/10.1167/iovs.66.12.5; https://iovs.arvojournals.org/article.aspx?articleid=2810772 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.D3A1FCBB |
| Database: |
BASE |