Cheloni Riccardo, Jackson Daniel, Moosajee Mariya
UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
J Clin Med. 2022 Nov 22;11(23):6877. doi: 10.3390/jcm11236877.
X-linked retinitis pigmentosa (RP) is a severe form of RP, often with early macular involvement. This study aimed to characterise the natural history of patients with a diagnosis of X-linked RP due to RP2 mutations. Clinical details, best-corrected visual acuity (BCVA) and multimodal retinal imaging were retrospectively collected from patients with RP2 variants from Moorfields Eye Hospital (London, UK). Measures of the ellipsoid-zone (EZ) width, central retinal thickness (CRT), and thickness of the photoreceptor and retinal pigment epithelium complex (PR+RPE, taken between the external limiting membrane and RPE) were extracted from spectral-domain optical coherence tomography (SD-OCT) scans. A total of 47 affected males (median baseline age: 20 years, IQR: 12.5−36.5) were included, and 41 had two or more visits (median follow-up: 8.0 years, IQR: 3.2−14.5). A total of 24 RP2 variants were identified, 13 of which were novel. BCVA dropped from 0.66 LogMAR at baseline (IQR, 0.35−1.4) to 1.3 LogMAR at the most recent visit (IQR: 0.6−1.4). SD-OCT revealed a prevalent outer retinal atrophy (n = 23/35, 65.7%), and measurable EZ width at baseline in 34.3% of patients (n = 12). Age significantly affected all quantitative measures (p < 0.001) except EZ width (p = 0.58), with exponential decays of 46−49% and 12.6−33.9% per decade for BCVA and SD-OCT measures, respectively. RP2 patients exhibited rapid progression to outer retina atrophy and early macular involvement with substantial vision loss by age 30−40.
X连锁视网膜色素变性（RP）是一种严重的RP形式，通常早期累及黄斑。本研究旨在描述因RP2突变而诊断为X连锁RP患者的自然病程。回顾性收集了来自英国伦敦摩尔菲尔德眼科医院的RP2变异患者的临床细节、最佳矫正视力（BCVA）和多模态视网膜成像资料。从光谱域光学相干断层扫描（SD-OCT）图像中提取椭圆体带（EZ）宽度、中央视网膜厚度（CRT）以及光感受器和视网膜色素上皮复合体厚度（PR+RPE，在外部限制膜和RPE之间测量）。共纳入47例受影响男性（中位基线年龄：20岁，四分位间距：12.5 - 36.5），其中41例有两次或更多次就诊（中位随访时间：8.0年，四分位间距：3.2 - 14.5）。共鉴定出24种RP2变异，其中13种为新发现的变异。BCVA从基线时的0.66 LogMAR（四分位间距，0.35 - 1.4）降至最近一次就诊时的1.3 LogMAR（四分位间距：0.6 - 1.4）。SD-OCT显示普遍存在外层视网膜萎缩（n = 23/35，65.7%），34.3%的患者（n = 12）在基线时有可测量的EZ宽度。年龄对除EZ宽度外（p = 0.58）的所有定量指标均有显著影响（p < 0.001），BCVA和SD-OCT指标每十年分别呈指数衰减46 - 49%和12.6 - 33.9%。RP2患者在30 - 40岁时迅速进展为外层视网膜萎缩和早期黄斑受累，并伴有严重视力丧失。
