Question: What are the genetic changes related to Leber congenital amaurosis ?
Answer: Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detecting cells called photoreceptors. Other genes are involved in phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Still other genes play a role in the function of cilia, which are microscopic finger-like projections that stick out from the surface of many types of cells. Cilia are necessary for the perception of several types of sensory input, including vision. Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
Source: GHR

Question: What are the treatments for Leber congenital amaurosis ?
Answer: These resources address the diagnosis or management of Leber congenital amaurosis: - Gene Review: Gene Review: Leber Congenital Amaurosis - Genetic Testing Registry: Leber congenital amaurosis 1 - Genetic Testing Registry: Leber congenital amaurosis 10 - Genetic Testing Registry: Leber congenital amaurosis 12 - Genetic Testing Registry: Leber congenital amaurosis 13 - Genetic Testing Registry: Leber congenital amaurosis 14 - Genetic Testing Registry: Leber congenital amaurosis 2 - Genetic Testing Registry: Leber congenital amaurosis 3 - Genetic Testing Registry: Leber congenital amaurosis 4 - Genetic Testing Registry: Leber congenital amaurosis 5 - Genetic Testing Registry: Leber congenital amaurosis 9 - Genetic Testing Registry: Leber's amaurosis - National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR