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

{"title":"Congenital X-Linked Retinoschisis in an Indian Population: A Single Center Study in 70 Eyes","authors":"Abhishek Das, Parag K. Shah, Veerappan R. Saravanan, Prema Subramaniam, Narendran Venkatapathy","doi":"10.1016/j.ajo.2025.02.031","DOIUrl":null,"url":null,"abstract":"<div><h3>PURPOSE</h3><div>To study and analyze the demographics, clinical features, and surgical indications in congenital X-linked retinoschisis (CXLRS) in an Indian population.</div></div><div><h3>DESIGN</h3><div>Retrospective case series.</div></div><div><h3>METHODS</h3><div>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.</div></div><div><h3>RESULTS</h3><div>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%).</div></div><div><h3>CONCLUSIONS</h3><div>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.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"274 ","pages":"Pages 142-148"},"PeriodicalIF":4.1000,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S000293942500100X","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}

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

求助全文

约1分钟内获得全文求助全文

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.