婴儿期先天性白内障的临床表现及危险因素分析

王博浩; 庞仪琳; 苗恒; 鲍永珍

doi:10.3760/cma.j.cn115989-20230206-00038

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中华实验眼科杂志

• 临床研究 •

ENGLISH ABSTRACT

婴儿期先天性白内障的临床表现及危险因素分析

作者及单位信息

出版日期： 2025 -03 -10 ·

DOI： 10.3760/cma.j.cn115989-20230206-00038

Clinical manifestations and risk factors of congenital cataract in infants

Authors Info & Affiliations

Wang Bohao

Department of Ophthalmology, Peking University People's Hospital, Beijing Key Laboratory of Ocular Disease and Optometry Science, Beijing 100044, China

Pang Yilin

Department of Ophthalmology, Peking University People's Hospital, Beijing Key Laboratory of Ocular Disease and Optometry Science, Beijing 100044, China

Miao Heng

Department of Ophthalmology, Peking University People's Hospital, Beijing Key Laboratory of Ocular Disease and Optometry Science, Beijing 100044, China

Bao Yongzhen

Department of Ophthalmology, Peking University People's Hospital, Beijing Key Laboratory of Ocular Disease and Optometry Science, Beijing 100044, China

Published： 2025 -03 -10 ·

DOI： 10.3760/cma.j.cn115989-20230206-00038

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摘要

目的对比不同年龄段确诊的先天性白内障患儿临床表现差异，探讨婴儿期先天性白内障的临床特征及危险因素。

方法采用横断面研究设计，收集在北京大学人民医院眼科诊断为先天性白内障的6岁以内患儿156例病历资料，根据首诊月龄是否≤12个月分为婴儿期组107例和非婴儿期组49例，对比2个组患儿临床表现的差异。采用多因素Logistic回归分析婴儿期先天性白内障的危险因素。

结果婴儿期组双眼发病率为80.37%(86/107)，显著高于非婴儿期组的48.98%(24/49)，差异有统计学意义( χ ²＝15.931， P<0.001)。婴儿期组以白瞳为就诊主诉的比例为87.85%(94/107)，显著高于非婴儿期组的44.90%(22/49)，差异有统计学意义( χ ²＝32.521， P<0.001)。2个组间出生孕周、出生体质量、吸氧史比例比较，差异均有统计学意义( χ ²＝13.300、8.363、13.283，均 P<0.05)。多因素Logistic回归分析结果显示，早产史( OR＝2.901， P＝0.026)、低出生体质量( OR＝3.316， P＝0.047)、吸氧史( OR＝3.040， P＝0.012)、家族遗传史( OR＝14.224， P＝0.013)是婴儿期先天性白内障的主要危险因素。医院筛查确诊先天性白内障患儿的首诊月龄小于家长观察组，差异有统计学意义( Z＝1 416.000， P＝0.045)。

结论婴儿期先天性白内障多双眼发病，主要临床表现为白瞳症，早产、低出生体质量、新生儿期吸氧史及家族遗传史为先天性白内障早发危险因素。医院筛查有助于婴儿期先天性白内障的早期诊断。

关键词：先天性白内障;婴儿期;临床表现;早发危险因素

ABSTRACT

ObjectiveTo compare the clinical manifestations of congenital cataracts across different age groups and investigate the clinical characteristics and risk factors associated with infantile congenital cataracts.

MethodsA cross-sectional study was conducted.The medical records of 156 children aged under 6 years diagnosed with congenital cataracts at Peking University People's Hospital were collected.Participants were divided into two groups, the infantile group (107 cases) and the non-infantile group (49 cases) according to whether the first diagnosis was ≤12 months.Clinical presentations were compared between the two groups.Risk factors for infantile congenital cataracts was analyzed by multivariate logistic regression.This study adhered to the Declaration of Helsinki, and the study protocol was reviewed and approved by the Ethics Review Committee of Peking University People's Hospital (No.2023PHB150-001).

ResultsThe incidence rate of both eyes in the infantile group was 80.37%(86/107), which was significantly higher than 48.98%(24/49) in the non-infantile group ( χ ²=15.931, P<0.001).The proportion of chief complaint of leucocoria in the infantile group was 87.85%(94/107), which was significantly higher than 44.90%(22/49) in the non-infantile group ( χ ²=32.521, P<0.001).There were significant differences in the proportion of gestational age, birth weight, and neonatal oxygen therapy between the two groups ( χ ²=13.300, 8.363, 13.283; all P<0.05).Multivariate logistic regression analysis showed that preterm birth ( OR=2.901, P=0.026), low birth weight ( OR=3.316, P=0.047), history of oxygen inhalation ( OR=3.040, P=0.012), and a family history of cataracts ( OR=14.224, P=0.013) were the main risk factors for congenital cataracts in infancy.The age of first diagnosis in children diagnosed with congenital cataracts through hospital screening was younger than that through parent observation ( Z=1 416.00, P=0.045).

ConclusionsInfantile congenital cataracts predominantly present in both eyes with leukocoria as main manifestation.Preterm birth, low birth weight, neonatal oxygen exposure, and family history of cataracts are risk factors for infantile congenital cataracts.Systematic hospital screening is essential for the early detection of congenital cataracts in infants.

KEYWORDS： Congenital cataract;Infancy;Clinical manifestations;Early risk factors

Corresponding author: Bao Yongzhen, Email: mocdef.aabniszyoabrd

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引用本文

王博浩,庞仪琳,苗恒,等. 婴儿期先天性白内障的临床表现及危险因素分析[J]. 中华实验眼科杂志,2025,43(03)：250-255.

DOI:10.3760/cma.j.cn115989-20230206-00038

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除非特别声明，本刊刊出的所有文章不代表中华医学会和本刊编委会的观点。

先天性白内障是目前全球儿童可治性盲的首要病因。以往研究显示，40%～70%的先天性白内障患儿处于婴儿期 ^{[
1
,

2
]}。婴儿期是人类视觉发育的关键阶段，先天性白内障可以影响婴儿期所获取视觉信息的质量，严重影响患儿的视功能发育，引发形觉剥夺型弱视 ^{[
3
]}；即使后期进行积极的弱视治疗也常常难以改善视力预后。若患儿早期确诊并在婴儿期行手术治疗，通过适当的屈光矫正和弱视训练后，绝大多数患儿能安全有效地获得良好的生活视力 ^{[
4
,

5
]}。因此，明确婴儿期先天性白内障的临床特征和早发危险因素对于挽救先天性白内障患儿的视功能至关重要。既往研究表明，先天性白内障的发生主要受遗传因素、环境因素、各类染色体异常导致的多系统综合征的影响 ^{[
6
,

7
]}。随着优生优育等政策的开展落实，人们对于孕期保健、基因筛查、产前检查更加重视，目前的出生缺陷率已明显降低，环境致病因素也在发生变化。此外，随着辅助生殖技术的发展，双胎妊娠的发生率增加，早产的发生率也随之升高，早产、低出生体质量所导致的眼部疾病不容忽视。既往有关先天性白内障的研究纳入的患儿年龄跨度均较大，多为幼儿期乃至学龄期的患儿，而单纯针对婴儿期先天性白内障的研究极少，因此针对当前社会环境，对于婴儿期先天性白内障的临床特征及危险因素进行研究具有重要意义。本研究将1岁以下首诊的婴儿期先天性白内障患儿与1岁以上首诊的非婴儿期先天性白内障患儿进行对比，探讨婴儿期先天性白内障的临床表现及早发危险因素。

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摘要
参考文献

参考文献

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Rahi JS , Dezateux C ．Congenital and infantile cataract in the United Kingdom：underlying or associated factors.British Congenital Cataract Interest Group[J]. Invest Ophthalmol Vis Sci， 2000，41(8)∶2108-2114.