Cataracts associated with inborn errors of metabolism: a diagnostic aid.

A Cantani, M Ferrara, G Bamonte
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Abstract

Inborn errors of metabolism are a substantial field of medicine. Although genetic syndromes associated with cataracts are rare, they are important since early detection and effective treatment of visual handicaps is one of the most urgent duties of any practitioner and pediatrician. Cooperation among pediatricians, ophthalmologists, orthoptists and geneticists, as well as the institution of a high-risk registry for visual handicaps appears to be of paramount importance.

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与先天性代谢缺陷有关的白内障:一种诊断辅助工具。
先天性代谢错误是医学的一个重要领域。虽然与白内障相关的遗传综合征很少见,但它们很重要,因为早期发现和有效治疗视力障碍是任何医生和儿科医生最紧迫的职责之一。儿科医生、眼科医生、骨科医生和遗传学家之间的合作,以及视力障碍高危登记制度的建立,似乎是至关重要的。
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