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Leber's Congenital Amaurosis Defined and Explained

written by: angiem1981 • edited by: Leigh A. Zaykoski • updated: 12/31/2009

Leber's congenital amaurosis is a rare condition that can rob victims of their eyesight. Knowing and understanding the symptoms and treatment options can make a difference in the lives of those touched with this disorder.

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    Leber's congenital amaurosis, commonly referred to as LCA, is a condition of the eye that was first defined in 1869 by Theodor Leber. Believed to be an inherited disease, the condition is quite rare and is present at birth. Statistics indicate that vision loss and blindness occurring in childhood are often the result of Leber's. Despite the fact that the disease was recognized in the 1800s, there are still many unanswered questions and new discoveries pertaining to the disorder.

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    Exactly What is LCA and How Does It Affect Vision?

    The National Institute of Health defines Leber's as a severe dystrophy of the retina. This dystrophy mainly causes abnormalities in structures of the eye that result in difficulty seeing, among many other affects. This condition is caused by an inherited genetic mutation. Those that suffer from this disorder may exhibit sensitivity to light, the inability to distinguish objects from one another, and night blindness. These symptoms are typically apparent in infancy for most individuals. This is because infants with this disorder may be unresponsive to visual stimuli and tend to rub, press, or poke at the eyes rather frequently. Although the most common problem is notably decreased vision, other disorders may also accompany LCA. They can include developmental delays and mental retardation, which is even more rare.

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    Treatment and Testing

    Presently, there is no cure for Leber's congenital amaurosis. Periodic vision screenings and prevention of additional symptoms and vision damage is the main emphasis. Scientists have been looking to genetic therapies that may be able to restore vision for some patients. Until the latter part of 2008, clinical trials of these therapies were limited to canines. As of now, there is little information on the effects of such therapies in humans.

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    Leber's Congenital Amaurosis Statistics

    The rate of incidence is quite low. Only an estimated 3 infants of 100,000 live births will be born with LCA in the United States. More than 20% of these infants will constitute the population of blind children. Since this is a congenital disorder, the condition does not develop spontaneously in childhood or adulthood. However, unaffected persons can carry the gene, meaning that their offspring do have some risk of inheriting Leber's.

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    References

    Leber Congenital Amaurosis. University of Washington. PubMed. 2003-2009. Viewed 30, December 2009. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lca.

    Gene Therapy for Childhood Blindness. National Eye Institute. U.S. Department for Health and Human Services. 2009. Viewed 30, December 2009. http://www.nei.nih.gov/lca/blindness.asp