Retina and Uvea Services, Dr R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Indian J Pediatr. 2018 Mar;85(3):237-242. doi: 10.1007/s12098-017-2394-1. Epub 2017 Jul 7.
Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after initial reports of success in management with gene therapy. This review discusses in brief the clinical presentation and investigative modalities used in LCA. Further, the road to gene discovery and details of currently applied gene therapy are presented. LCA is one of the first successfully managed human diseases and offers an entirely new dimension in ocular therapeutics.
视网膜盲是儿童视力丧失的一个重要原因。莱伯先天性黑矇（LCA）就是其中一个原因，它常被错误地归入视网膜色素变性的范畴。在最初的基因治疗管理成功报告之后，该疾病已成为研究的焦点。本文简要讨论了 LCA 的临床表现和所使用的检查方法。此外，还介绍了基因发现的途径和目前应用的基因治疗的细节。LCA 是第一个成功管理的人类疾病之一，为眼科学治疗提供了全新的维度。
