Krieger Children's Eye Center, The Johns Hopkins Hospital, Baltimore, Maryland 21287-9028, USA.
Curr Opin Ophthalmol. 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc.
The purpose of this review is to outline those systemic disorders with associated cataracts to help in the evaluation and diagnosis of the patient with pediatric cataract who has systemic abnormalities.
With the profound advancement in genetics, both making and confirming a diagnosis in rare syndromic disorders have become even more possible. By diagnosing a syndromic cataract, the patient and family members are afforded the opportunity to obtain a better understanding of their disorder as well as develop expectations as to the course of their child's disorder.
The intent of this article is to act as a resource for helping to determine the cause of cataracts based on the lens appearance, age of onset and systemic findings. Children with cataracts, especially when bilateral, require a comprehensive history and ophthalmic examination with physician awareness toward other organ system involvement. A basic assessment of facial, skeletal, genitourinary, gastrointestinal and integumentary abnormalities is beneficial. In this review, there are numerous tables that are to act as a resource in developing a differential diagnosis and guide further systemic and genetic evaluation.
本文旨在概述与白内障相关的系统性疾病，以帮助评估和诊断伴有全身异常的小儿白内障患者。
随着遗传学的深入发展，罕见的综合征性疾病的诊断变得更加可能。通过诊断综合征性白内障，患者及其家属有机会更好地了解其疾病，并对其子女疾病的进程形成预期。
本文旨在作为一种资源，根据晶状体外观、发病年龄和全身表现来帮助确定白内障的病因。有白内障的儿童，尤其是双眼白内障，需要全面的病史和眼科检查，并让医生注意到其他器官系统的受累情况。对面部、骨骼、泌尿生殖、胃肠道和皮肤异常进行基本评估是有益的。在这篇综述中，有许多表格作为鉴别诊断的资源，并指导进一步的系统和遗传评估。
