Journal
OPHTHALMIC GENETICS
Volume 38, Issue 1, Pages 7-15Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2016.1275021
Keywords
Causal genes; disease subtypes; emerging treatment options; Leber congenital amaurosis (LCA)
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Funding
- FFB-Canada
- CIHR
- FRSQ
- NIH
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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.
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