Coussa Razek Georges, Lopez Solache Irma, Koenekoop Robert K
a Department of Paediatric Surgery, Montreal Children's Hospital , McGill University Health Centre , Montreal , Quebec , Canada.
b The McGill Ocular Genetics Laboratory, Paediatric Ophthalmology Division , Montreal Children's Hospital, McGill University Health Centre , Montreal , Quebec , Canada.
Ophthalmic Genet. 2017 Jan-Feb;38(1):7-15. doi: 10.1080/13816810.2016.1275021. Epub 2017 Jan 17.
This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known, and the world's first human retinal disease to be treated by gene therapy. Dr. Maumenee's insights, efforts, and leadership have contributed significantly to this remarkable scientific journey. In this manuscript, we present a short summary of the known LCA genes, LCA disease subtypes, and emerging treatment options. Our manuscript consolidates previous knowledge with current findings in an attempt to provide a more comprehensive understanding of LCA.
本文献给艾琳·胡塞尔·莫梅内，她是约翰·霍普金斯大学威尔默眼科研究所的人类遗传学和眼科教授，1994 - 1995年眼遗传学奖学金主任。莱伯先天性黑蒙（LCA）几乎走过了一个完整的轮回，从一种严重且分子特征不明的先天性视网膜失明形式，发展到如今已知大量致病基因和疾病途径，并且成为世界上首个通过基因疗法进行治疗的人类视网膜疾病。莫梅内博士的见解、努力和领导能力为这一非凡的科学历程做出了重大贡献。在本手稿中，我们简要总结了已知的LCA基因、LCA疾病亚型以及新兴的治疗选择。我们的手稿将先前的知识与当前的研究结果相结合，试图更全面地理解LCA。
