Congenital X-Linked Retinoschisis in an Indian Population: A Single Center Study in 70 Eyes

IF 4.1 1区医学 Q1 OPHTHALMOLOGY

American Journal of Ophthalmology Pub Date : 2025-02-25 DOI:10.1016/j.ajo.2025.02.031

Abhishek Das, Parag K. Shah, Veerappan R. Saravanan, Prema Subramaniam, Narendran Venkatapathy

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引用次数: 0

Abstract

PURPOSE

To study and analyze the demographics, clinical features, and surgical indications in congenital X-linked retinoschisis (CXLRS) in an Indian population.

DESIGN

Retrospective case series.

METHODS

This was a retrospective case series in 70 eyes, which included all the patients diagnosed with CXLRS. A data set including demographic characteristics, phenotype, frequency of follow-up/surgery, surgical techniques and details, pre- and postoperative visual acuity, and complications of CXLRS patients followed up were obtained and analyzed.

RESULTS

A total of 70 eyes of 35 patients were included. Mean age at presentation was 6.9 ± 3.8 years. Mean follow-up time was 65.2 ± 30.4 months. Most common phenotype was type 3 (77.1%) which is foveal schisis on clinical examination and optical coherence tomography (OCT), as well as lamellar schisis on OCT, plus peripheral schisis on ophthalmoscopy. Five eyes underwent vitreo-retinal surgery (VR), and 2 eyes underwent laser therapy. Mean central foveal thickness was 532 ± 223.1 µm. Median best-corrected visual acuity of patients undergoing VR surgery (logMAR) was 1.8 (1.1-2). Rhegmatogenous retinal detachment (RRD) was the most common cause of surgery in patients with CXLR. Median best-corrected final visual acuity (logMAR) was 0.6 (0.2-2.0). The most frequent VR procedure was pars plana vitrectomy, and most common tamponade used was silicone oil (100%).

CONCLUSIONS

Family history and screening is important. RRD is a vision-threatening complication of CXLRS, and surgical intervention in the form of vitrectomy or scleral buckle can be performed. Multi-modal imaging such as OCT can be an assistive tool.

查看原文本刊更多论文

印度人群先天性x连锁视网膜裂（CXLRS）。70只眼睛的单中心研究。

背景：研究和分析印度人群先天性x连锁视网膜裂（CXLRS）的人口统计学、临床特征和手术指征。设计：回顾性病例系列。方法：对70只眼的病例进行回顾性分析，其中包括所有诊断为CXLRS的患者。对随访的CXLRS患者的人口学特征、表型、随访/手术次数、手术技术及细节、术前术后视力及并发症等数据进行分析。结果：纳入35例患者70只眼。平均发病年龄为6.9±3.8岁。平均随访时间65.2±30.4个月。最常见的表型为3型（77.1%），临床检查和OCT显示为中央凹分裂，OCT显示为板层分裂，检眼镜显示为周围分裂。5眼行玻璃体视网膜手术（VR）， 2眼行激光治疗。平均中央凹厚度（微米）为532±223.1µm。接受VR手术患者的中位最佳矫正视力（BCVA）（LogMAR）为1.8（1.1-2）。孔源性视网膜脱离（RRD）是CXLR患者最常见的手术原因。中位最佳校正的最终VA （LogMAR）为0.6（0.2-2.0）。最常见的VR手术是玻璃体切割，最常见的填塞是硅油（100%）。结论：家族史和筛查是重要的。RRD是XLRS的一种危及视力的并发症，可以进行玻璃体切除或巩膜扣环等手术干预。光学相干断层扫描（OCT）等多模态成像可以作为辅助工具。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Ophthalmology 医学-眼科学

CiteScore

9.20

自引率

7.10%

发文量

406

审稿时长

36 days

期刊介绍： The American Journal of Ophthalmology is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations. Published monthly since 1884, the full text of the American Journal of Ophthalmology and supplementary material are also presented online at www.AJO.com and on ScienceDirect. The American Journal of Ophthalmology publishes Full-Length Articles, Perspectives, Editorials, Correspondences, Books Reports and Announcements. Brief Reports and Case Reports are no longer published. We recommend submitting Brief Reports and Case Reports to our companion publication, the American Journal of Ophthalmology Case Reports. Manuscripts are accepted with the understanding that they have not been and will not be published elsewhere substantially in any format, and that there are no ethical problems with the content or data collection. Authors may be requested to produce the data upon which the manuscript is based and to answer expeditiously any questions about the manuscript or its authors.