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印度视网膜色素变性的临床表现、人口分布及潜在治疗意义:基于电子病历的大数据分析:报告一

Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I.

作者信息

Parameswarappa Deepika C, Das Anthony Vipin, Dave Vivek Pravin, Agarwal Komal, Natarajan Ramya, Jalali Subhadra

机构信息

Srimati Kanuri Santhamma Center for Vitreo - Retinal Diseases, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Department of eyeSmart EMR & AEye, LV Prasad Eye Institute, Hyderabad, India.

出版信息

Semin Ophthalmol. 2022 Apr 3;37(3):284-290. doi: 10.1080/08820538.2021.1957126. Epub 2021 Aug 17.

Abstract

AimTo 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.DesignCross-sectional hospital-based study.MethodsThis 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.ResultsOverall, 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%).ConclusionRetinitis 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

目的

描述印度一家多层眼科医院网络中视网膜色素变性患者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

本研究纳入了2012年3月至2020年10月期间就诊的2541810例患者。至少一只眼睛临床诊断为视网膜色素变性的患者被纳入病例组。数据通过电子病历系统收集。

结果

总体而言,15062例(0.59%)新诊断为视网膜色素变性的患者被纳入分析。中位年龄为35岁(四分位间距:21 - 49岁),成年患者(84.56%)更为常见。最常见的就诊年龄组为21至30岁(20%)。大多数患者为男性(61.68%),且双眼受累(96.39%)。十分之一的患者有家族史(10.46%),少数患者有近亲结婚史(5.53%)。大多数眼睛有轻度或无中心视力损害,视力<20/70(34.25%),其次是失明,视力<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%),几乎所有患者都有视网膜色素改变。少数眼睛接受了手术治疗(4.96%)。

结论

视网膜色素变性通常为双侧性,主要影响男性。大多数患者在生命的第三个十年出现,伴有严重的视力损害。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规划具有启示意义。

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