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.
The aim: 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.
Conclusion: 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.
Keywords: Clinical picture; Mitochondrial disease; Prevalence; Primary mutations.
Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.