Leber's Congenital Amaurosis
Leber,s Congenital Amaurosis (LCA)
Leber's Congenital Amaurosis What is LCA? Leber's Congenital Amaurosis (LCA) is a rare genetic disorder in which retinal dysfunction causes vision loss, often from birth. The extent of vision loss varies from patient to patient, but can be quite severe (with little to no light perception). LCA is named after the doctor who first described it, Dr. Theodore Leber. Congenital means "a condition existing since birth, usually hereditary," and Amaurosis refers to a total loss of vision, especially when the vision loss does not result in any apparent change to the eye. This is why LCA eyes usually look normal upon initial examination. What causes LCA? LCA is an autosomal recessive disease. This means that both parents must be carriers of one of the defective genes that causes LCA. Carriers bear the defective gene but are not necessarily afflicted with the disease. LCA is primarily a genetic disorder and the most promising research right now involves gene discovery and gene therapy. Researchers have discovered nine genes that cause LCA so far, but they believe there are many more. To learn more about the known genes that cause LCA, visit The Foundation for Retinal Research website.
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