Chung Daniel C, Traboulsi Elias I
F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
J AAPOS. 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004.
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss, nystagmus, and severe retinal dysfunction. To date, 15 causative genes have been identified that account for the heterogeneous presentation and clinical course. Knowledge of key aspects of phenotype and clinical course can contribute to the determination of a precise genetic etiology using genetic testing. Gene-based therapies are emerging, and knowledge of a patient's genotype is essential. A review of clinical presentation and disease course, their correlation to specific genotypes, and underlying physiological mechanisms, coupled with the latest results of human gene therapy trials, will assist the clinician in patient diagnosis and counseling.
莱伯先天性黑矇症是一组儿童期早发性视网膜营养不良症，其特征为视力丧失、眼球震颤和严重的视网膜功能障碍。迄今为止，已鉴定出15个致病基因，这些基因导致了其临床表现和病程的异质性。了解表型和病程的关键方面有助于通过基因检测确定精确的遗传病因。基于基因的疗法正在兴起，了解患者的基因型至关重要。对临床表现和疾病病程、它们与特定基因型的相关性以及潜在生理机制的综述，再结合人类基因治疗试验的最新结果，将有助于临床医生对患者进行诊断和咨询。
