ABSTRACT

Aim

To describe the clinical presentation and demographic distribution of retinitis pigmentosa in patients presenting to a multi-tier ophthalmology hospital network in India and implications for potential treatments.

Design

Cross-sectional hospital-based study.

Methods

This study included 2,541,810 patients presenting between March 2012 and October 2020. Patients with a clinical diagnosis of retinitis pigmentosa in at least one eye were included as cases. The data were collected using an electronic medical record system.

Results

Overall, 15,062 (0.59%) new patients were diagnosed with retinitis pigmentosa and were included for analysis. The median age was 35 (IQR: 21–49) years and adult age (84.56%) presented more often. The most common presenting age group was between 21 and 30 years (20%). Majority of patients were male (61.68%) and had bilateral (96.39%) affliction. There was a family history in a tenth of the patients (10.46%) and a history of consanguinity in a minority (5.53%). The majority of the eyes had mild or no central visual acuity impairment of <20/70 (34.25%) followed by blindness <20/400 to 20/1200 (21.26%). The predominant retinal signs included disc pallor (76.43%), attenuated arterioles (82.61%) and bony spicule pigmentation (90.15%), and almost all had retinal pigmentary changes. A minority of the eyes underwent a surgical procedure (4.96%).

Conclusion

Retinitis pigmentosa is commonly bilateral and predominantly affects males. Most patients present in the third decade of life with severe visual acuity impairment. More than half of the eyes from our study are potential candidates for newer therapies. These results have implications for upcoming treatment choices and planning.

摘要

目标

描述就诊于印度多层眼科医院网络的患者中色素性视网膜炎的临床表现和人口统计学分布，以及对潜在治疗的影响。

设计

基于医院的横断面研究。

方法

这项研究包括 2,541,810 名在 2012 年 3 月至 2020 年 10 月期间就诊的患者。临床诊断为至少一只眼睛患有色素性视网膜炎的患者被纳入病例。这些数据是使用电子病历系统收集的。

结果

总体而言，15,062 名 (0.59%) 新患者被诊断患有色素性视网膜炎，并被纳入分析。中位年龄为 35 (IQR: 21-49) 岁，成人年龄 (84.56%) 出现的频率更高。最常见的年龄组为 21 至 30 岁（20%）。大多数患者为男性（61.68%）并有双侧（96.39%）痛苦。十分之一的患者（10.46%）有家族史，少数有近亲史（5.53%）。大多数眼睛有轻度或无中心视力损害<20/70 (34.25%)，其次是失明<20/400 至20/1200 (21.26%)。主要的视网膜体征包括视盘苍白（76.43%）、小动脉变细（82.61%）和骨针状色素沉着（90.15%），几乎都有视网膜色素改变。少数眼睛接受了外科手术（4.96%）。

结论

色素性视网膜炎通常是双侧的，主要影响男性。大多数患者在生命的第三个十年出现严重的视力障碍。我们研究中超过一半的眼睛是新疗法的潜在候选者。这些结果对即将到来的治疗选择和计划有影响。