Mutations in the optic atrophy type 1 gene (OPA1; OMIM: 605290) cause autosomal dominant optic atrophy (ADOA; OMIM: 165500), which is characterized by slowly progressive bilateral loss of visual acuity, centrocecal visual field defects, and color vision disturbances. The gene discussed is OPA1; the disease is autosomal dominant optic atrophy.