Autosomal Recessive ADAMTSL4-Related Isolated Ectopia Lentis in the Ohio Old Order Amish and Mennonite Communities.

IF 0.5 Q4 OPHTHALMOLOGY

Journal of VitreoRetinal Diseases Pub Date : 2024-04-29 eCollection Date: 2024-07-01 DOI:10.1177/24741264241249024

TsunKang Chiang, Amy Kloosterboer, Faruk Örge, Warren Sobol, Jose J Echegaray

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引用次数: 0

Abstract

Purpose: To present a series of 4 patients from the Ohio Amish or Mennonite populations with isolated ectopia lentis. Methods: A case series was evaluated. Results: Four cases with bilateral lens subluxations were diagnosed with a homozygous c.767_786del pathogenic variant in ADAMTSL4. Their ages ranged from 2 to 22 years. Three cases were symptomatic and were managed surgically with lensectomy, vitrectomy, and endolaser photocoagulation with or without secondary intraocular lens (IOL) implantation. One asymptomatic patient was observed. The postoperative visual acuity ranged from 20/20 to 20/60 in nonamblyopic eyes. Conclusions: The pathogenic homozygous c.767_786del variant in ADAMTSL4 may be a cause of bilateral isolated ectopia lentis in the Ohio Amish and Mennonite populations, likely as a result of a founder effect. Vitrectomy and lens extraction with or without secondary IOL implantation may lead to good visual outcomes. There were no cases of retinal detachment.

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俄亥俄州旧教派阿米什人和门诺人社区中与常染色体隐性遗传 ADAMTSL4 相关的孤立性大肛门外翻。

目的：介绍俄亥俄州阿米什人或门诺人中 4 例孤立性眼睑外翻患者的系列病例。方法：对一系列病例进行评估：对一系列病例进行评估。结果：四例双侧晶状体半脱位患者被确诊为 ADAMTSL4 中的同源 c.767_786del 致病变异体。他们的年龄从 2 岁到 22 岁不等。其中三例患者无症状，接受了晶状体切除术、玻璃体切除术和内激光光凝术，并植入或不植入二次眼内晶体（IOL）。还观察到一名无症状患者。非弱视眼的术后视力从 20/20 到 20/60 不等。结论ADAMTSL4 中的致病性同源 c.767_786del 变异可能是俄亥俄州阿米什人和门诺人中双侧孤立性有晶体眼病的病因，这很可能是创始效应的结果。进行玻璃体切除术和晶状体摘除术，同时植入或不植入二次人工晶体，可获得良好的视觉效果。没有视网膜脱离病例。

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

Journal of VitreoRetinal Diseases

CiteScore

1.20

自引率

16.70%

发文量