According to the Foundation Fighting Blindness, Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. It is inherited in an autosomal recessive manner, meaning that both parents must carry a defective gene for their child to be born with the disorder.
A variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. Some patients with LCA also experience central nervous system abnormalities.
Also, scientists have identified 14 genes with mutations that can each cause LCA. These genes account for approximately 75 percent of all cases of LCA. With this information, scientists are better equipped to develop preventions and treatments.
A five-country international team, led by Casey Eye Institute Molecular Diagnostic laboratory, BGI and Zhejiang University School of Medicine First Affiliated Hospital identified the NMNAT1 mutations as a cause of Leber congenital amaurosis (LCA), one of the most common causes of inherited blindness in children. The latest study was published online in Nature Genetics, reporting the genetic characteristics underlying some LCA patients, and providing important evidences that support NMNAT1 as a promising target for the gene therapy of LCA.
LCA is an inherited retinal degenerative disease characterized by severe loss of vision at birth. It is estimated that LCA occurs in 2 to 3 per 100,000 newborns. Currently a lot of studies are being done on LCA. Scientists found that LCA could result from mutations in at least 17 genes, all of which are necessary for normal vision and play important roles in the development and function of the retina. More importantly, gene replacement therapy has been successful in animal models and in humans more studies are underway. However, the genetic characters for about 20-30% LCA patients are still unknown.
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