Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
Ophthalmologica. 2022;245(2):134-143. doi: 10.1159/000520305. Epub 2021 Oct 25.
The purpose of this study was to compare clinical/demographic functional testing and multimodal imaging features between genetically solved and genetically unsolved nonsyndromic retinitis pigmentosa (nsRP) patients.
A cross-sectional study was conducted at an inherited retinal dystrophies reference center. Consecutive patients with nsRP and available genetic testing results performed between 2018 and 2020 were included. Genetic testing was clinically oriented, and variants were classified according to the American College of Medical Genetics and Genomics. Only class IV or V variants were considered disease-causing. Clinical/demographic, functional, and imaging features were compared between genetically unsolved (G1) and genetically solved (G2) patients.
A total of 175 patients (146 families) were included: 68 patients (59 families) in G1 and 107 patients (87 families) in G2. First symptoms <25 years, consanguinity, evidence for a particular inheritance pattern, and the absence of indicators for phenocopies were significantly more prevalent in G2. No significant differences were observed on best-corrected visual acuity. The visual field index and mean central retinal layer thickness were significantly higher in G1. The frequency of atypical features on multimodal imaging did not differ between groups.
Individual clinical/demographic functional testing and multimodal imaging features should be considered when counseling patients about the probability of identifying disease-causing variants.
本研究的目的是比较已明确基因和未明确基因的非综合征性视网膜色素变性（nsRP）患者的临床/人口统计学功能测试和多模态成像特征。
这是一项在遗传性视网膜营养不良参考中心进行的横断面研究。纳入了 2018 年至 2020 年期间进行了临床定向基因检测且有结果的连续 nsRP 患者。基因检测根据美国医学遗传学与基因组学学院进行分类，仅将 IV 类或 V 类变异视为致病。比较了未明确基因（G1）和已明确基因（G2）患者的临床/人口统计学、功能和影像学特征。
共纳入 175 名患者（146 个家系）：G1 组 68 名患者（59 个家系），G2 组 107 名患者（87 个家系）。G2 组中首次症状<25 岁、近亲结婚、存在特定遗传模式证据和无表型相似迹象的比例显著更高。最佳矫正视力无显著差异。G1 组的视野指数和平均中心视网膜层厚度显著更高。多模态成像上非典型特征的频率在两组间无差异。
在为患者提供致病变异可能性的咨询时，应考虑个体的临床/人口统计学功能测试和多模态成像特征。
