Search on: OPTIC ATROPHY, AUTOSOMAL DOMINANT 
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Descriptor English:   Optic Atrophy, Autosomal Dominant 
Descriptor Spanish:   Atrofia Óptica Autosómica Dominante 
Descriptor Portuguese:   Atrofia Óptica Autossômica Dominante 
Synonyms English:   Dominant Optic Atrophy
Optic Atrophy, Hereditary, Autosomal Dominant  
Tree Number:   C10.292.700.225.500.100
C10.574.500.662.100
C11.270.564.100
C11.640.451.451.100
C16.320.290.564.100
C16.320.400.630.100
C18.452.660.665
Definition English:   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. 
History Note English:   2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
ultrastructure urine
ultrasonography veterinary
virology  
Record Number:   36012 
Unique Identifier:   D029241 

Occurrence in VHL: 		 

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