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[Hereditary optic neuropathies: clinical and molecular genetic characteristics].

Abstract
The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.
AuthorsN A Khanakova, N L Sheremet, A N Loginova, A L Chukhrova, A V Poliakov
JournalVestnik oftalmologii (Vestn Oftalmol) Vol. 129 Issue 6 Pg. 82-7 ( 2013) ISSN: 0042-465X [Print] Russia (Federation)
PMID24624809 (Publication Type: English Abstract, Journal Article, Review)
Topics
  • Genetic Predisposition to Disease
  • Genetic Testing (methods)
  • Global Health
  • Humans
  • Molecular Biology (methods)
  • Optic Atrophies, Hereditary (diagnosis, epidemiology, genetics)
  • Prevalence

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