Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine
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DOI：
10.1016/j.exer.2019.107834
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发表时间：
2019-12-01
影响因子：
3.4
通讯作者：
Abu-Amero, Khaled K.
中科院分区：
文献类型：
--
作者：
Kondkar, Altaf A.;Abu-Amero, Khaled K.
视网膜营养不良是儿童先天性失明的主要原因之一。莱伯氏先天性黑蒙 (LCA) 是遗传性视网膜营养不良的最严重形式之一，可导致婴儿期早发性儿童失明。这些临床特征为眼球震颤、黑蒙瞳孔反应以及显着降低或在大多数情况下完全缺失全视野视网膜电图。 LCA表现出巨大的遗传异质性。随着下一代遗传技术的进步，过去二十年在发现导致视网膜营养不良的基因和遗传缺陷方面取得了巨大进展。目前，已有 28 个基因与 LCA 的发病机制有关，并且随着靶向基因治疗成功治疗的初步报道，该疾病近年来引起了广泛的研究关注。该综述提供了 LCA 的遗传学基础、基因检测的范围以及诊断和治疗这些疾病的药物遗传学医学的最新信息。
Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal dystrophy responsible for early-onset childhood blindness in infancy. These are clinically characterized by nystagmus, amaurotic pupil response and markedly reduced or in most instances completely absent full-field electroretinogram. LCA exhibits immense genetic heterogeneity. With advances in next-generation genetic technologies, tremendous progress has been achieved over the last two decades in discovering genes and genetic defects leading to retinal dystrophies. Currently, 28 genes have been implicated in the pathogenesis of LCA and with initial reports of success in management with targeted gene therapy the disease has attracted a lot of research attention in the recent time. The review provides an update on genetic basis of LCA, scope for genetic testing and pharmacogenetic medicine in diagnosis and treatment of these diseases.