Clinicoetiological profile of congenital cataracts in children: A single-center experience

L. Cornelius, Jered Livinston Kanagaraj, N. Elango
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Abstract

Congenital cataract is the most common treatable cause of blindness during infancy and is responsible for 5%–20% of blindness in children worldwide. It was a retrospective descriptive study analyzing the causes of congenital cataracts in infants referred to the pediatric neurology department of a tertiary care institution, in South India. Thirty-two infants with congenital cataracts underwent evaluation. Thirteen (40.6%) were <6 months and 19 (59.4%) beyond 6 months of age. White reflex in eyes was the primary complaint in 14 (43.8%), not looking at the caregiver in 10 (31.3%), squint in 5 (15.6%), and involuntary movement of eyeballs in 3 (9.4%) patients. Cataracts were bilateral in 26 (81.3%) and unilateral in 6 (18.7%) patients. The associated features were developmental delay in 25 (78.1%), microcephaly in 15 (46.9%), seizures in 6 (18.8%), cardiac disease in 6 (18.8%), focal deficit in 3 (9.4%), and deafness in 2 (6.3%). Neuroimaging revealed basal ganglia calcifications in 6 (18.7%), cerebral atrophy in 3 (9.4%), gliosis in parieto-occipital regions and hyperintensities in frontal regions in 2 (6.3%) children each, and hydrocephalus, Dandy–Walker malformation, thin corpus callosum, and hypomyelination in one (3.1%) each. The etiological causes were confirmed rubella syndrome in 7 (21.9%), probable rubella syndrome in 3 (9.4%), confirmed cytomegalovirus in 6 (18.8%), probable cytomegalovirus in 7 (21.9%), herpes virus infection in 1 (3.1%), combined infections in 2 (6.3%), Down syndrome in 3 (9.4%), Lowe syndrome in 1 (3.1%), and idiopathic in 2 (6.3%) patients. Intrauterine infections, especially cytomegaloviral and rubella infections, are the common causes for congenital cataracts in infants. Vaccination against rubella, knowledge about intrauterine infections, mode of spread, and prevention are the needs of the hour.
儿童先天性白内障的临床遗传学概况:单中心经验
先天性白内障是婴儿期最常见的可治疗致盲原因,占全球儿童失明的 5%-20%。 这是一项回顾性描述性研究,分析了印度南部一家三级医疗机构儿科神经科转诊的婴儿患先天性白内障的原因。 32 名患有先天性白内障的婴儿接受了评估。其中 13 名婴儿(40.6%)的年龄小于 6 个月,19 名婴儿(59.4%)的年龄超过 6 个月。14例(43.8%)患者的主要症状是眼白反射,10例(31.3%)患者不看看护人,5例(15.6%)患者斜视,3例(9.4%)患者眼球不自主运动。26名(81.3%)患者患有双侧白内障,6名(18.7%)患者患有单侧白内障。相关特征包括:25 例(78.1%)发育迟缓、15 例(46.9%)小头畸形、6 例(18.8%)癫痫发作、6 例(18.8%)心脏疾病、3 例(9.4%)局灶性缺陷和 2 例(6.3%)耳聋。神经影像学检查显示,6 名患儿(18.7%)基底节钙化,3 名患儿(9.4%)脑萎缩,2 名患儿(6.3%)顶枕区胶质增生和额叶区高密度,1 名患儿(3.1%)脑积水、丹迪-沃克畸形、胼胝体薄和髓鞘发育不全。病因方面,7 例(21.9%)确诊为风疹综合征,3 例(9.4%)可能为风疹综合征,6 例(18.8%)确诊为巨细胞病毒,7 例(21.9%)可能为巨细胞病毒,1 例(3.1%)为疱疹病毒感染,2 例(6.3%)为合并感染,3 例(9.4%)为唐氏综合征,1 例(3.1%)为洛氏综合征,2 例(6.3%)为特发性。 宫内感染,尤其是巨细胞病毒和风疹感染,是导致婴儿先天性白内障的常见原因。接种风疹疫苗、了解宫内感染、传播方式和预防知识是当务之急。
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审稿时长
27 weeks
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