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基于基因检测的儿童孔源性视网膜脱离病因因素分析。

Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.

机构信息

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

出版信息

Am J Ophthalmol. 2020 Oct;218:330-336. doi: 10.1016/j.ajo.2020.02.015. Epub 2020 Feb 27.

Abstract

PURPOSE

The purpose of this study was to investigate the etiology and clinical features of nontraumatic rhegmatogenous retinal detachment (RRD) in children.

DESIGN

Consecutive, cross-sectional study.

METHODS

In this study, 112 operative eyes of 102 patients ≤18 years of age with nontraumatic RRD were included. Comprehensive ophthalmic examinations were performed in all patients. Genetic testing was performed in 34 patients with hereditary congenital/developmental diseases. The etiology of RRD was analyzed.

RESULTS

The average age was 12.2 ± 4.5 years (range, 1-18 years). The percentages of male and female patients were 74.5% (76/102) and 25.5% (26/102), respectively. The most common etiologic factors were congenital/developmental anomalies (51/102, 50%), followed by simple myopia (34/102, 33.3%) and previous intraocular surgery (6/102, 5.9%). More than half (31/51, 60.8%) of the patients with congenital/developmental anomalies had familial exudative vitreoretinopathy. Further analysis of the underlying etiologic factors based on age revealed that the most common etiology of RRD in patients ≤12 years of age was congenital/developmental anomalies (28/48, 58.3%); however, simple myopia was the major etiologic factor in patients >12 years of age (27/54, 50%).

CONCLUSIONS

Congenital/developmental diseases were the most common etiologies of pediatric nontraumatic RRD in China. Familial exudative vitreoretinopathy accounted for most of the congenital/developmental anomalies.

摘要

目的

本研究旨在探讨儿童非外伤性孔源性视网膜脱离(RRD)的病因和临床特征。

设计

连续、横断面研究。

方法

本研究纳入了 102 例年龄≤18 岁的 112 只手术眼的非外伤性 RRD 患者。所有患者均行全面眼科检查。对 34 例遗传性先天性/发育性疾病患者进行基因检测。分析 RRD 的病因。

结果

平均年龄为 12.2±4.5 岁(范围 1-18 岁)。男、女患者比例分别为 74.5%(76/102)和 25.5%(26/102)。最常见的病因因素是先天性/发育性异常(51/102,50%),其次是单纯近视(34/102,33.3%)和既往眼内手术(6/102,5.9%)。先天性/发育性异常患者中超过一半(31/51,60.8%)有家族性渗出性玻璃体视网膜病变。根据年龄进一步分析潜在病因因素发现,≤12 岁患者 RRD 最常见的病因是先天性/发育性异常(28/48,58.3%);而>12 岁患者主要病因是单纯近视(27/54,50%)。

结论

在中国,先天性/发育性疾病是儿童非外伤性 RRD 的最常见病因。家族性渗出性玻璃体视网膜病变占先天性/发育性异常的大多数。

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