Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Retina. 2021 Jan 1;41(1):213-223. doi: 10.1097/IAE.0000000000002808.
To investigate the natural history of RHO-associated retinitis pigmentosa (RP).
A multicenter, medical chart review of 100 patients with autosomal dominant RHO-associated RP.
Based on visual fields, time-to-event analysis revealed median ages of 52 and 79 years to reach low vision (central visual field <20°) and blindness (central visual field <10°), respectively. For the best-corrected visual acuity (BCVA), the median age to reach mild impairment (20/67 ≤ BCVA < 20/40) was 72 years, whereas this could not be computed for lower acuities. Disease progression was significantly faster in patients with a generalized RP phenotype (n = 75; 75%) than that in patients with a sector RP phenotype (n = 25; 25%), in terms of decline rates of the BCVA (P < 0.001) and V4e retinal seeing areas (P < 0.005). The foveal thickness of the photoreceptor-retinal pigment epithelium (PR + RPE) complex correlated significantly with BCVA (Spearman's ρ = 0.733; P < 0.001).
Based on central visual fields, the optimal window of intervention for RHO-associated RP is before the 5th decade of life. Significant differences in disease progression are present between generalized and sector RP phenotypes. Our findings suggest that the PR + RPE complex is a potential surrogate endpoint for the BCVA in future studies.
研究 RHO 相关视网膜炎色素变性（RP）的自然病史。
对 100 例常染色体显性 RHO 相关 RP 患者进行多中心病历回顾。
基于视野，时间事件分析显示，达到低视力（中心视野<20°）和失明（中心视野<10°）的中位年龄分别为 52 岁和 79 岁。最佳矫正视力（BCVA）方面，达到轻度损害（20/67≤BCVA<20/40）的中位年龄为 72 岁，而对于较低视力则无法计算。在具有广泛 RP 表型的患者（n=75；75%）中，BCVA（P<0.001）和 V4e 视网膜视区（P<0.005）的下降速度明显快于具有局灶性 RP 表型的患者（n=25；25%）。光感受器-视网膜色素上皮（PR+RPE）复合体的中央凹厚度与 BCVA 显著相关（Spearman's ρ=0.733；P<0.001）。
基于中心视野，RHO 相关 RP 的最佳干预窗口期在 50 岁之前。广泛和局灶性 RP 表型之间存在疾病进展的显著差异。我们的发现表明，PR+RPE 复合体可能是未来研究中 BCVA 的潜在替代终点。
