Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Jan-Feb;38(1):7-15.
doi: 10.1080/13816810.2016.1275021. Epub 2017 Jan 17.

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Razek Georges Coussa  1   2 , Irma Lopez Solache  2 , Robert K Koenekoop  1   2
Affiliations
Review

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Razek Georges Coussa et al. Ophthalmic Genet. 2017 Jan-Feb.

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.

Keywords: Causal genes; Leber congenital amaurosis (LCA); disease subtypes; emerging treatment options.

PubMed Disclaimer

Conflict of interest statement

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

References

    1. [accessed on Nov. 3rd 2016];GeneReviews® [Internet] https://www.ncbi.nlm.nih.gov/books/NBK1298/, which was.
    1. Oliveira L, Miniou P, Viegas-Pequignot E, et al. Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13. 1. Genomics. 1994;22:478–481. - PubMed
    1. Duda T, Venkataraman V, Goraczniak R, et al. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber’s congenital amaurosis. Biochemistry. 1999;38:509–515. - PubMed
    1. The Human Gene Mutation Database (HGMD®) http://www.hgmd.cf.ac.uk.
    1. Rozet JM, Perrault I, Gerber S, et al. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA) Invest Ophthalmol Vis Sci. 2001;42:1190–2. - PubMed

Personal name as subject