Leber congenital amaurosis (LCA) is a group of degenerative diseases of the retina, and is the most common cause of congenital blindness in children. It is an autosomal recessive condition; when both parents carry the specific genetic mutation, each child has a 25 percent chance of being affected. Symptoms usually are noticed in early infancy and include loss of vision, light sensitivity, and wobbly eye movement (nystagmus).
One type of LCA is caused by a mutation in the RPE65 gene, whose function is to process a type of vitamin A needed to keep light-sensing photoreceptor cells working. This defect is rare, but it is untreatable and severe causing blindness early in life.
In 2008 the results of two separate early clinical trials of gene transfer for LCA caused by a mutation in the RPE65 gene were published in the New England Journal of Medicine.
The RPE65 gene transfer trials are directed only at the replacement of this specific defective gene, and persons with other types of LCA are not involved in these studies. Presently, there is no treatment that can cure LCA.
For NEI information on this topic, please visit the following webpages:
Gene Therapy for Leber Congenital Amaurosis
NEI YouTube, Leber Congenital Amaurosis
The National Ophthalmic Genotyping Network (eyeGENETM ) is creating a national tissue repository to further advance genetic research on inherited eye disease. Because gene mutations are associated with many eye diseases, including a number of forms of retinal degenerations, gene-based therapies are being very actively pursued by the NEI and others.
For more information please visit the following webpage:
National Eye Institute, eyeGENE� - National Ophthalmic Disease Genotyping Network
If appropriate, suggest: