Leber's congenital amaurosis

Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. EDAR (EDAR hypohidrotic ectodermal dysplasia) Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. One form of LCA was successfully treated with gene therapy in 2008. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. The term congenital refers to a condition present from birth (not acquired) and amaurosis refers to a loss of vision not associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes. LCA is typically characterized by nystagmus, sluggish or absent pupillary responses, and severe vision loss or blindness. It is usually autosomal recessive; however, importantly for family planning, it is sometimes autosomal dominant. It is a disorder thought to be caused by abnormal development of photoreceptor cells. OMIM currently recognizes 18 types of LCA. The gene CEP290 has been associated with Joubert syndrome, as well as type 10 LCA. Genetic tests and related research are currently being performed at Centogene AG in Rostock, Germany; John and Marcia Carver Nonprofit Genetic Testing Laboratory in Iowa City, IA; GENESIS Center for Medical Genetics in Poznan, Poland; Miraca Genetics Laboratories in Houston, TX; Asper Biogene in Tartu, Estonia; CGC Genetics in Porto, Portugal; CEN4GEN Institute for Genomics and Molecular Diagnostics in Edmonton, Canada; and Reference Laboratory Genetics - Barcelona, Spain.