Search on: KJER-TYPE OPTIC ATROPHIES 
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Descriptor English:   Optic Atrophy, Autosomal Dominant 
Descriptor Spanish:   Atrofia Óptica Autosómica Dominante 
Descriptor Portuguese:   Atrofia Óptica Autossômica Dominante 
Synonyms English:   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  
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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   36012 
Unique Identifier:   D029241 

Occurrence in VHL: 		 

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