Nihalani Bharti R, VanderVeen Deborah K
Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Graefes Arch Clin Exp Ophthalmol. 2023 Jan;261(1):241-246. doi: 10.1007/s00417-022-05802-7. Epub 2022 Aug 15.
Evaluation for systemic diagnosis is an important part of pediatric cataract management. While there are reports on associated systemic and ocular associations in children with infantile cataracts, reports specifying associations in large cohorts of children undergoing cataract surgery are lacking.
Retrospective chart review of consecutive patients undergoing cataract surgery at a pediatric tertiary referral center during 30-year period was performed. Associated systemic and ocular associations were recorded. The etiologies were analyzed depending on laterality, age, and gender.
Seven-hundred twenty-seven patients (1135 eyes) were included for analysis: 408 (56%) with bilateral and 319 (44%) with unilateral cataract. An identifiable cause for cataract was identified in 66% (270/408) bilateral and 55% (176/319) unilateral cataract patients. Hereditary cataract accounted for 22% of bilateral cataracts. An underlying syndrome or genetic diagnosis was found in 24% bilateral (97/408, 86 genetic/syndromic, 11 metabolic) but only in 2% of unilateral cases (5/319). Cataracts were the result of treatment for cancer, or other systemic conditions requiring steroids, in 60/408 bilateral (15%) and 15/319 (5%) unilateral cataract patients. In contrast, unilateral cataracts had higher ocular associations (49%, 156/319) than bilateral cataracts (6%, 23/408) primarily ocular trauma (20%, 64/319) and persistent fetal vasculature (20%, 62/319).
Clinicians should be aware of potential systemic and ocular associations among children with visually significant cataracts. Those with no family history of juvenile cataract should be evaluated for systemic associations, and referral to genetics may be warranted in select cases.
进行系统诊断评估是小儿白内障治疗的重要组成部分。虽然有关于婴儿白内障患儿相关全身及眼部关联的报道，但缺乏针对接受白内障手术的大量儿童队列中特定关联的报道。
对一家儿科三级转诊中心30年间连续接受白内障手术的患者进行回顾性病历审查。记录相关的全身及眼部关联情况。根据白内障的侧别、年龄和性别对病因进行分析。
纳入727例患者（1135只眼）进行分析：408例（56%）为双侧白内障，319例（44%）为单侧白内障。在66%（270/408）的双侧白内障患者和55%（176/319）的单侧白内障患者中确定了可识别的白内障病因。遗传性白内障占双侧白内障的22%。在24%的双侧病例（97/408，86例基因/综合征性，11例代谢性）中发现了潜在的综合征或基因诊断，但仅在2%的单侧病例（5/319）中发现。在60/408例（15%）双侧和15/319例（5%）单侧白内障患者中，白内障是癌症治疗或其他需要使用类固醇的全身疾病的结果。相比之下，单侧白内障的眼部关联（49%，156/319）高于双侧白内障（6%，23/408），主要是眼外伤（20%，64/319）和永存原始玻璃体增生症（20%，62/319）。
临床医生应意识到视力显著受损的白内障患儿中潜在的全身及眼部关联。那些无青少年白内障家族史的患儿应评估其全身关联情况，在某些特定病例中可能需要转诊至遗传学专家处。
