Leber congenital amaurosis: disease, genetics and therapy

Seminars in Ophthalmology
Ednan Ahmed, John Loewenstein

Abstract

Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that was first described almost 150 years ago. LCA still remains an important cause of blindness with about 20% of children in schools for the blind being affected by it. LCA has genetic heterogeneity and the study of this disease is elucidating the genetics and molecular interactions involved in the development of the retina. This paper reviews the clinical history of the disease since it was first described. We further discuss the differential diagnosis of the disease and the difficulties encountered in making the diagnosis. We also review the genetics of the disease and the role of future therapies.

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Citations

Apr 29, 2008·The New England Journal of Medicine·Joan W Miller
Jan 1, 2011·BMJ Case Reports·Leo SheckAndrea Vincent
Nov 5, 2010·Journal of Ophthalmology·Maria A Musarella, Ian M Macdonald
Dec 23, 2008·Trends in Molecular Medicine·Pasqualina ColellaAlberto Auricchio
Feb 17, 2015·World Journal of Clinical Cases·Oscar Francisco Chacon-Camacho, Juan Carlos Zenteno
Dec 2, 2017·Journal of Cellular and Molecular Medicine·Saber ImaniJunjiang Fu
May 1, 2021·International Journal of Molecular Sciences·Wei ChiuDe-Kuang Hwang

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