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Leberova hereditárna optická neuropatia
Č. záznamu d029242 Dátum 06.06.2025 Typ M - MESH Tematický termín Leberova hereditárna optická neuropatia Iný termín Angličtina (Pseudonym) Leber Hereditary Optic Atrophy
Slovenčina (Pseudonym) Leberova dedičná atrofia zrakového nervu
Slovenčina (Pseudonym) Leberova atrofia zrakového nervu, dedičná
Slovenčina (Pseudonym) Leberova atrofia zrakového nervu, hereditárna
Slovenčina (Pseudonym) neuroretinopatia hereditárna optická
Slovenčina (Pseudonym) Leberova hereditárna optická atrofia
Slovenčina (Pseudonym) Leberova dedičná atrofia optika
MDT C10.292.700.225.500.400C10.574.500.662.400C11.270.564.400C11.640.451.451.400C16.320.290.564.400C16.320.400.630.400C18.452.660.670 Poznámka 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)) 
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