Leber hereditary optic neuropathy - historical report in comparison with the current knowledge
| Autor: | Magdalena Korwin, Ewa Bartnik, Katarzyna Tońska, Agnieszka E. Piotrowska |
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| Rok vydání: | 2014 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities LEBER HEREDITARY OPTIC NEUROPATHY Pediatrics medicine.medical_specialty genetic structures Mitochondrial disease Disease Optic Atrophy Hereditary Leber Biology DNA Mitochondrial Genetics medicine Animals Humans Optic nerve atrophy History 19th Century General Medicine medicine.disease eye diseases Pedigree Ophthalmology Mutation Female sense organs Inherited disease |
| Zdroj: | Gene. 555(1) |
| ISSN: | 1879-0038 |
| Popis: | Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was made by Theodor Leber, a German ophthalmologist, in 1871. Here we present his thorough notes about members of four families and their pedigrees. We also provide insights into the current knowledge about LHON pathology, genetics and treatment in comparison with Leber's findings. |
| Databáze: | OpenAIRE |
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