Optic Atrophy, Autosomal Dominant [autozomálně dominantně dědičná optická atrofie]
- Terms
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atrofie optiku, typ 1
autozomálně dominantně dědičná atrofie optiku
Kjerova atrofie optiku
Kjerova autozomálně dominantní atrofie optiku
nervus opticus - atrofie autozomálně dominantní
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Autosomal Dominant Optic Atrophy
Autosomal Dominant Optic Atrophy Kjer Type
Dominant Optic Atrophy
Kjer Type Optic Atrophy
Kjer-Type Optic Atrophy
Kjer's Optic Atrophy
Optic Atrophy 1
Optic Atrophy Type 1
Optic Atrophy, Hereditary, Autosomal Dominant
Optic Atrophy, Juvenile
Optic Atrophy, Kjer Type
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.
- DUI
- D029241 MeSH Browser
- CUI
- M0333666
- Previous indexing
- Optic Atrophy (1971-2001); Optic Atrophy, Hereditary (1989-2001)
- History note
- 2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001
- Public note
- 2002; see OPTIC ATROPHIES, HEREDITARY 2000-2001
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 1
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology 1
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology