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
Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
Medical Genetics, Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.
Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):5. doi: 10.1167/iovs.66.12.5.
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).
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.
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%).
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.
在一大群经基因定义的非综合征性视网膜色素变性（RP）患者中，研究黄斑囊样水肿（CME）的患病率与致病基因的关系。
对580例临床和基因诊断为非综合征性RP患者的光谱域光学相干断层扫描（SD-OCT）图像进行回顾性分析，以评估疾病过程中CME的存在情况。
在疾病过程中，179例患者（30.9%）至少一只眼睛出现了CME。根据患者的基因型，我们发现CME患病率根据遗传模式存在统计学显著差异（P < 0.001），常染色体显性形式与CME的关联更频繁（51.4%），其次是常染色体隐性形式（28.1%），但在X连锁RP中很少观察到CME（7.5%）。通过分析最常见的致病基因，我们发现由于RHO（58.2%）、PRPF8（72.7%）和PRPF3（75.0%）变异导致的常染色体显性RP形式患者中CME患病率最高，而在RP2（3.4%）和RPGR（8.8%）突变的X连锁病例中患病率最低。
本研究揭示了在迄今为止报道的最大基因型队列中，CME与非综合征性RP的潜在致病基因密切相关，为RP中CME的发病机制提供了新见解。我们的研究结果强调了对RP患者进行SD-OCT形态学评估对于改善疾病管理和更好地探索基因型-表型相关性的重要性。
