Leber Disease Epidemiological Characteristics And Combination Treatment Efficacy Evaluation

Leber's hereditary optic neuropathy (LHON) is now recognized as the most frequently occurring mitochondrial disease. With the development of the molecular genetics, the diagnostic criterion of LHON is definite. Yet we are still faced with many extraordinary enigmas with this disease. The different clinical characters and the hereditary features have been unexplained. What's more, there is no effective therapy for it currently available. It is the purpose of this article to study the epidemiological rules by analyzing the essential information, the time of the onset, and the clinical manifestation of 134 cases of LHON; and we estimate the effect of an integrated traditional and western regime in treatment, in order to find an available therapy for LHON.This study includes two parts:1. The epidemiological features in Chinese patients with Leber's hereditary optic neuropathy Objective To study the epidemiological rules by analyzing the essential information, the time of the onset, and the clinical manifestation. Methods The essential information, the time of the onset, and the clinical manifestation of 134 patients with determinate diagnosis of LHON by tested for mtDNA mutations are collected. We compare the gender ratio, the condition of the habitation (city/country), the family history, the time of the onset and visual acuity of the patients with the different mutation. Moreover, we discuss the relationship between the gender/ the habitation (city/country)/ the family history and the visual acuity of the patients with the 11778 mutation. Results The male to female ratio in the patients with the 11778 mutation is much higher than the ratio in those who with the 14484 mutation (P<0.001). But the ratio of the patients with family history in the patients with the 14484 mutation is much higher than the ratio in those who with the 11778 mutation (P<0.005). There isn't statistically significant difference between the lowest visual acuity of the patients with the 11778 mutations and the lowest visual acuity of those who with the 14484 mutations (P>0.25), but the visual acuity got in follow-up visit of the patients with the 14484 mutations is better(P<0.001). There is no relationship between the gender/ the habitation (city/country)/ the family history and the visual acuity of the patients with the 11778 mutation. Conclusion The gender ratio in the patients with the 11778 mutation is very different to the gender ratio in those who with the 14484 mutation, the ratio of patient with family history and the prognosis are similar. We will try to find out the reasons of the difference so as to provide some new approaches for the prevention and cure of LHON.2. The evaluation of the effect of an integrated traditional and western regime in treatment of LHON with the mtDNA11778 mutationObjective To observe the clinical effect of the combined treatment of traditional...