title: Leber hereditary optic neuropathy in the population of Serbia.
abstract: BACKGROUND
  Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. However, few countries have published their population-based findings related to this multisystemic disease.
  
  
  OBJECTIVE
  In order to get a better insight into the epidemiological and clinical picture of this maternally inherited disorder, we performed the first population-based clinical and molecular-genetic study of LHON in the Serbian population.
  
  
  METHODS
  Prospective study included patients who were diagnosed with LHON after detailed medical examination and molecular-genetic confirmation.
  
  
  RESULTS
  We identified 41 individuals from 12 genealogically unrelated families, carrying one of the three "primary" mitochondrial (mt) DNA point mutations associated with LHON. Fourteen of them were clinically affected, giving a minimum point prevalence of 1.9 per 1,000,000. The minimum point prevalence for mtDNA LHON mutations was 5.2 per 1,000,000. Male to female ratio was 6:1. Only one affected patient harboured mutant mtDNA in heteroplasmic condition. All patients were presented with common clinical findings.
  
  
  CONCLUSIONS
  We observed significantly lower prevalence and higher gender ratio than expected. However, frequencies of primary mutations, incidence of heteroplasmy and clinical findings are in accordance with other studies in Caucasoid populations. Our results might be a consequence of poor recognition and misdiagnosis due to lack of diagnostic possibilities of the entity in different region of our country or less likely be in part due to specific haplotype background of Serbian population which should be further investigated.
authors: Clinic of Neurology and Psychiatry for Children and Youth, Medical Faculty, University of Belgrade, Serbia. Electronic address: jasna.jancic.npk@gmail.com.
authors: Jasna
authors: J
authors: Jančić
authors: Clinic of Neurology and Psychiatry for Children and Youth, Medical Faculty, University of Belgrade, Serbia.
authors: Ivana
authors: I
authors: Dejanović
authors: Institute of Pharmacology and Toxicology, Medical Faculty, University of Belgrade, Serbia.
authors: Janko
authors: J
authors: Samardžić
authors: Institute for Medical Research, University of Belgrade, Serbia.
authors: Saša
authors: S
authors: Radovanović
authors: Clinic of Neurology and Psychiatry for Children and Youth, Medical Faculty, University of Belgrade, Serbia.
authors: Ana
authors: A
authors: Pepić
authors: Institute of Ophthalmology, Medical Faculty, University of Belgrade, Serbia.
authors: Natalija
authors: N
authors: Kosanović-Jaković
authors: Institute of Histology and Embryology, Medical Faculty, University of Belgrade, Serbia.
authors: Mila
authors: M
authors: Ćetković
authors: Clinic of Neurology, Medical Faculty, University of Belgrade, Serbia.
authors: Vladimir
authors: V
authors: Kostić
mesh_terms: D000328:Adult; D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000453:epidemiology* / Q000235:genetics; D010375:Pedigree; D015995:Prevalence; D011446:Prospective Studies; D055771:Serbia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial
keywords: Clinical picture; Mitochondrial disease; Prevalence; Primary mutations