Optic Atrophy, Hereditary, Leber [Leberova atrofie zrakového nervu]

topical
24
Terms

atrofie optiku s mitochondriální dědičností
Leberova dědičná optická neuropatie
Leberova hereditární atrofie optiku
Leberova hereditární neuropatie optiku
Leberova hereditární optická neuropatie
LHON
nervus opticus - dědičná Leberova atrofie

 

Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy
Leber Hereditary Optic Neuropathy
Leber Optic Atrophy
Leber Optic Atrophy and Dystonia
Leber's Disease
Leber's Hereditary Optic Atrophy
Leber's Hereditary Optic Neuropathy
Leber's Optic Atrophy
Leber's Optic Neuropathy
Optic Atrophy, Leber Type
Optic Atrophy, Leber, Hereditary

Persistent link   https://www.medvik.cz/link/D029242
Definition

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

DUI
D029242 MeSH Browser
CUI
M0333667
Previous indexing
Optic Atrophies, Hereditary (1989-2001); Optic Atrophy/genetics (1977-1988)
History note
2002; use OPTIC ATROPHIES, HEREDITARY 1999-2001
Public note
2002; see OPTIC ATROPHIES, HEREDITARY 1999-2001

C Diseases
C10.292.700 Optic Nerve Diseases 118
C10.292.700.225 Optic Atrophy 51
C10.292.700.225.500 Optic Atrophies, Hereditary 5
C10.292.700.225.500.100 Optic Atrophy, Autosomal Dominant 3
C10.292.700.225.500.400 Optic Atrophy, Hereditary, Leber 24
C10.292.700.225.500.980 Wolfram Syndrome 8
C10.574.500.662.400 Optic Atrophy, Hereditary, Leber 24
C10.574.500.662.980 Wolfram Syndrome 8
C11 Eye Diseases 1 495
C11.270.564.980 Wolfram Syndrome 8
C11.640.451 Optic Atrophy 51
C11.640.451.451.400 Optic Atrophy, Hereditary, Leber 24
C11.640.451.451.980 Wolfram Syndrome 8
C16.320.290.564.400 Optic Atrophy, Hereditary, Leber 24
C16.320.290.564.980 Wolfram Syndrome 8
C16.320.400.630.400 Optic Atrophy, Hereditary, Leber 24
C16.320.400.630.980 Wolfram Syndrome 8
C18.452 Metabolic Diseases 1 200
C18.452.660 Mitochondrial Diseases 160
C18.452.660.300 Friedreich Ataxia 54
C18.452.660.520 Leigh Disease 26
C18.452.660.560 Mitochondrial Myopathies 40

Marsden syndrome Disease MeSH Browser