Leber Congenital AmaurosisPrint Page
Leber congential amaurosis (LCA) is a genetic disorder that causes severe visual impairment at birth or in early childhood. It was first outlined in a paper published in 1869 by the German ophthalmologist Theodor Karl Gustav von Leber, which is where the disease gets its name. Leber originally suggested that the disease is a rare form of retinitis pigmentosa (RP), and that continues to be accepted today. LCA is unique in several ways, however: the symptoms are often noticed in the first weeks or months after a child’s birth, and vision loss is more rapid and severe, as opposed to the slow progression associated with other forms of RP. The disease is less prevalent than RP as well, affecting approximately 1 in 33,330 to 1 in 50,000 individuals.
LCA is the result of a mutation in one of at least 17 different genes, which is why it is called a “genetic” or “inherited” disorder. Depending on which gene or genes are mutated, different characteristics of the retina will be affected, but in all cases the retina’s ability to develop and function properly is inhibited. In some cases, for example, the photoreceptors, the light-sensitive retinal cells that convert light into messages for the brain, are no longer sending electrical signals correctly, resulting in severe visual impairment.
Content on this page was written by Dr. Chad Andrews and Dr. Mary Sunderland, and was most recently updated on August 23, 2018. An earlier version of the content was approved by Dr. Robert Koenekoop.
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