DISEASES Nervous System Diseases [C10] Nervous System Diseases Cranial Nerve Diseases [C10.292] Cranial Nerve Diseases Optic Nerve Diseases [C10.292.700] Optic Nerve Diseases Optic Atrophy [C10.292.700.225] Optic Atrophy Optic Atrophies, Hereditary [C10.292.700.225.500] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C10.292.700.225.500.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C10.292.700.225.500.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C10.292.700.225.500.980] Wolfram Syndrome DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurodegenerative Diseases [C10.574] Neurodegenerative Diseases Heredodegenerative Disorders, Nervous System [C10.574.500] Heredodegenerative Disorders, Nervous System Optic Atrophies, Hereditary [C10.574.500.662] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C10.574.500.662.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C10.574.500.662.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C10.574.500.662.980] Wolfram Syndrome DISEASES Eye Diseases [C11] Eye Diseases Eye Diseases, Hereditary [C11.270] Eye Diseases, Hereditary Optic Atrophies, Hereditary [C11.270.564] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C11.270.564.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C11.270.564.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C11.270.564.980] Wolfram Syndrome DISEASES Eye Diseases [C11] Eye Diseases Optic Nerve Diseases [C11.640] Optic Nerve Diseases Optic Atrophy [C11.640.451] Optic Atrophy Optic Atrophies, Hereditary [C11.640.451.451] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C11.640.451.451.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C11.640.451.451.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C11.640.451.451.980] Wolfram Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Optic Atrophies, Hereditary [C16.320.290.564] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C16.320.290.564.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C16.320.290.564.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C16.320.290.564.980] Wolfram Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Optic Atrophies, Hereditary [C16.320.400.630] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C16.320.400.630.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C16.320.400.630.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C16.320.400.630.980] Wolfram Syndrome DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Mitochondrial Diseases [C18.452.660] Mitochondrial Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.660.097] Carbamoyl-Phosphate Synthase I Deficiency Disease Cytochrome-c Oxidase Deficiency [C18.452.660.195] Cytochrome-c Oxidase Deficiency Friedreich Ataxia [C18.452.660.300] Friedreich Ataxia Leigh Disease [C18.452.660.520] Leigh Disease Mitochondrial Myopathies [C18.452.660.560] Mitochondrial Myopathies Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.660.612] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Optic Atrophy, Autosomal Dominant [C18.452.660.665] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C18.452.660.670] Optic Atrophy, Hereditary, Leber Pyruvate Carboxylase Deficiency Disease [C18.452.660.705] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.660.710] Pyruvate Dehydrogenase Complex Deficiency Disease

Optic Atrophy, Autosomal Dominant - Preferred

Concept UI	M0333666
Scope note	Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Preferred term	Optic Atrophy, Autosomal Dominant
Entry term(s)	Atrophies, Juvenile Optic Atrophies, Kjer-Type Optic Atrophy, Juvenile Optic Atrophy, Kjer's Optic Atrophy, Kjer-Type Optic Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy Kjer Type Dominant Optic Atrophies Dominant Optic Atrophy Juvenile Optic Atrophies Juvenile Optic Atrophy Kjer Optic Atrophy Kjer Type Optic Atrophy Kjer's Optic Atrophy Kjer-Type Optic Atrophies Kjer-Type Optic Atrophy Kjers Optic Atrophy Optic Atrophies, Dominant Optic Atrophies, Juvenile Optic Atrophies, Kjer-Type Optic Atrophy 1 Optic Atrophy 1s Optic Atrophy Type 1 Optic Atrophy, Dominant Optic Atrophy, Hereditary, Autosomal Dominant Optic Atrophy, Juvenile Optic Atrophy, Kjer Type Optic Atrophy, Kjer's Optic Atrophy, Kjer-Type