Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. (2nd January 2017)

• Record Type: Journal Article
• Authors: Coussa, Razek Georges; Lopez Solache, Irma; Koenekoop, Robert K.
• Is Part Of: Ophthalmic genetics. Volume 38:Number 1(2017)
• Page Start: 7
• Page End: 15
• Publication Date: 2017-01-02
• Subjects: Causal genes -- disease subtypes -- emerging treatment options -- Leber congenital amaurosis (LCA); Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2016.1275021
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: 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.