Eye Center, Second Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, Zhejiang, China.
Key Laboratory of Ophthalmology of Zhejiang Province, China.
Birth Defects Res. 2017 Jun 1;109(10):734-743. doi: 10.1002/bdr2.1050. Epub 2017 May 22.
Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children. For example, mutations in lens crystallins and membrane/cytoskeletal components that commonly underlie genetically inherited cataracts are now known. However, many questions still remain regarding the causes, progression, and pathology of neonatal cataracts. Further investigations are also required to improve diagnostic criteria for determining the timing of appropriate interventions, such as the implantation of intraocular lenses and postoperative management strategies, to ensure safety and predictable visual outcomes for children. Birth Defects Research 109:734-743, 2017. © 2017 Wiley Periodicals, Inc.
新生儿白内障仍然是全球儿童视力丧失的最常见原因，其病因多种多样，且常常不为人知。本文综述了先天性白内障的检测、治疗、遗传学、危险因素和分子机制的现有知识。我们强调了在临床白内障治疗和基础晶状体研究中都需要进一步研究的重要进展和课题。遗传筛查和手术技术的进步改善了患儿的诊断、管理和视觉预后。例如，现在已经知道常见的遗传性白内障是由晶状体晶体蛋白和膜/细胞骨架成分的突变引起的。然而，对于新生儿白内障的病因、进展和病理学，仍有许多问题尚未解决。为了改善确定适当干预时机的诊断标准，还需要进一步研究，例如人工晶状体植入和术后管理策略，以确保儿童的安全性和可预测的视觉预后。出生缺陷研究 109:734-743, 2017。© 2017 Wiley Periodicals, Inc.
