title: Leber congenital amaurosis: disease, genetics and therapy.
abstract: Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that was first described almost 150 years ago. LCA still remains an important cause of blindness with about 20% of children in schools for the blind being affected by it. LCA has genetic heterogeneity and the study of this disease is elucidating the genetics and molecular interactions involved in the development of the retina. This paper reviews the clinical history of the disease since it was first described. We further discuss the differential diagnosis of the disease and the difficulties encountered in making the diagnosis. We also review the genetics of the disease and the role of future therapies.
authors.affiliation: Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.
authors.forename: Ednan
authors.initials: E
authors.lastname: Ahmed
authors.forename: John
authors.initials: J
authors.lastname: Loewenstein
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000628:therapy*; D006801:Humans; D012162:Retinal Degeneration / Q000151:congenital / Q000235:genetics*