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OPTIC ATROPHY, AUTOSOMAL DOMINANT
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DeCS
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
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
36012
Unique Identifier:
D029241
Occurrence in VHL
:
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CID-10
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