Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.
Graefes Arch Clin Exp Ophthalmol. 2022 Sep;260(9):2859-2866. doi: 10.1007/s00417-022-05649-y. Epub 2022 Apr 7.
Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid macular edema (CME) and vitreomacular interface disorders (VMID) are known to complicate the RP phenotype, challenging an age-old concept of retained central visual acuity. The reported prevalence of these changes varies greatly among different studies. We aim to describe the frequency of CME and VMID and identify predictors of these changes in a cohort of Caucasian patients with genetically solved syndromic (sRP) and non-syndromic RP (nsRP).
Cross-sectional study of patients with genetically solved sRP or nsRP. Genetic testing was clinically oriented in all probands and coordinated by a medical geneticist. The presence/absence of CME and VMIDs such as epiretinal membrane (ERM), vitreomacular traction (VMT), lamellar hole (LH), macular hole (MH), and macular pseudohole (MPH), and the integrity of the neurosensory retina and retinal pigment epithelium were evaluated in individual macular SD-OCT b-scans. Mixed-effects regression analysis models were used to identify significant predictors of BCVA, CME, and VMID. Significance was considered at α < 0.05.
We included 250 eyes from 125 patients. Mean age was 44.9 ± 15.7 years and 55.2% were male. Eighty-eight patients had nsRP and 37 had sRP. Median BCVA was 0.5 (0.2-1.3) logMAR. CME was found in 17.1% of eyes, while ERM was found in 54.3% of eyes. The frequency of CME (p = 0.45) and ERM (p = 0.07) did not differ between sRP and nsRP patients, nor across different inheritance patterns. Mixed-effects univariate linear regression identified age (p = 0.04), cataract surgery (p < 0.01), and loss of integrity of outer retinal layers (p < 0.01) as significant predictors of lower visual acuity, while increased foveal thickness (p < 0.01) and the presence of CME (p = 0.04) were predictors of higher visual acuity. On mixed-effects multivariable analysis, only increased foveal thickness was significantly associated with better visual acuity (p < 0.01).
We found that the burden of ERM and CME in RP patients is high, highlighting the importance of screening for these potentially treatable conditions to improve the quality of life of RP patients.
色素性视网膜炎（RP）是一组遗传性视网膜疾病，其特征为进行性的视杆-视锥细胞变性。已知囊样黄斑水肿（CME）和玻璃体黄斑界面疾病（VMID）会使 RP 表型复杂化，这对保留中心视力的旧观念提出了挑战。不同研究报道的这些变化的患病率差异很大。我们旨在描述 CME 和 VMID 的发生频率，并确定在一组已明确遗传性综合征性（sRP）和非综合征性 RP（nsRP）的白种人患者中这些变化的预测因素。
对已明确遗传性 sRP 或 nsRP 的患者进行横断面研究。所有先证者均进行临床导向的基因检测，并由医学遗传学家协调。在每个黄斑 SD-OCT B 扫描中评估是否存在 CME 和 VMID，如视网膜内膜（ERM）、玻璃体黄斑牵引（VMT）、板层裂孔（LH）、黄斑裂孔（MH）和黄斑假性裂孔（MPH），以及神经感觉视网膜和视网膜色素上皮的完整性。使用混合效应回归分析模型来确定 BCVA、CME 和 VMID 的显著预测因素。以 α<0.05 为显著性水平。
我们纳入了 125 名患者的 250 只眼。平均年龄为 44.9±15.7 岁，55.2%为男性。88 名患者患有 nsRP，37 名患者患有 sRP。中位 BCVA 为 0.5（0.2-1.3）logMAR。17.1%的眼存在 CME，54.3%的眼存在 ERM。sRP 和 nsRP 患者之间的 CME（p=0.45）和 ERM（p=0.07）发生率无差异，不同遗传模式之间也无差异。混合效应单变量线性回归发现年龄（p=0.04）、白内障手术（p<0.01）和外视网膜层完整性丧失（p<0.01）是视力下降的显著预测因素，而中央视网膜厚度增加（p<0.01）和 CME 的存在（p=0.04）是视力提高的预测因素。在混合效应多变量分析中，只有中央视网膜厚度增加与较好的视力显著相关（p<0.01）。
我们发现 RP 患者的 ERM 和 CME 负担很高，这突出表明筛查这些潜在可治疗的疾病对于改善 RP 患者的生活质量非常重要。
