| Research background:In recent years, more and more researches about Leber’s hereditary optic neuropathy are carried out at home and abroad, meanwhile the understanding of it is improved continually. The reports of long-term follow-up about the vision of LHON patients is relatively less domesticly. The purpose of this article is to review the overall prognosis of LHON patients who has been treated in our hospital both in outpatient part and inpatient branch in 10 years, at the same time, do the TCM syndrome analysis of the 100 hospitalized LHON patients who have received intense TCM therapy, through retrospective investigation to guide clinical practice. The paper contains two parts literature review and clinical observations.Literature review:Includes two parts, 《Overview of Western theory about LHON》 and 《overview of the relevant Chinese medicine theory about LHON》. In《Overview of Western theory about LHON》, I do a brief summary about the definition of LHON and its background, epidemiology and penetrance features, pathophysiology, clinical manifestations, diagnosis and differential diagnosis, risk factors, treatment and the expectation.In《overview of the relevant Chinese medicine theory about LHON》, I do a summary about the origin of disease’s name, etiology, pathogenesis (TCM constitution theory, natural endowment, theory of Taidu, theory of Qingmang), treatment based on syndrome differentiation, prognosis and nursing.Clinical investigation:Objective:To investigate the age of onset, the prevalence of male and female, penetrance, the proportion of different mutations and long-term visual prognosis and Syndrome analysis of TCM from an epidemiological view, then do the further analyzing of the overall visual prognosis of different point mutations about LHON and the prognosis of TCM Syndromes.Methods:Calculating the gender differences and the different mutations rate from the collected 320 patients, finding the morbidity of different ages in the collected 311 patients, ccalculating the penetrance rate from 1317 maternal family members in the 155 incidence pedigrees. Do the statistical analysis of the prognosis and the overall prognosis about the three primary mutations from the 115(230eyes) patients who have been collected the vision. Do the statistic of the TCM syndrome from the 100 hospitalized patients and calculate the scores of the TCM syndromes before and after treatment.Results:1. In this 320 patients follow-up examination, male patients accounted for 279 (87.2%), while female patients accounted only 41 (12.8%), the prevalence gender ratio is about 7:1.2. The 311 LHON patients of this follow-up, the youngest incidence age is one-year-old, the oldest is 45-year-old, the average age of onset was 17.22±6.94 years old.3. During the 320(already identified mutation point) valid cases,11778 accounted for 250 cases (78.1%),14484 accounted for 38 cases (11.9%),3460 accounted for 11 cases (3.4%),11778+ 3460 point mutation accounted for 1 case (0.3%),11778+11696 site mutations accounted for 1 case (0.3%),11778+14502 mutation accounted for 3 cases (0.9%), while the rest accounted for 16 cases (5.1%).4. This follow-up contains 155 families by family history asking, and the total family member is 1317, the total penetrance is (386)29.3%, among which men accounted for 270 (20.5%), female accounted for 116 (8.8%).5. During this follow-up about vision the longest recovery time were 10 years, while the recovery degree of visual acuity has significant difference, some patients have the best recovery, which recovered even as before, but according statistical analysis vision between 0.05-0.3 in patients accounted for the largest number, this means most patients’prognosis vision were at this range, The vision range has no significant differences between three different mutation, most of the patients’ first visit vision concentrated in the range of 0.03-0.5, but the visual prognosis does have significant differences, in which the visual prognosis of 14484 point mutation was significantly higher than 11778 and 3460 mutations,meanwhile the number of recovery vision> 0.3 of 14484 mutation were significantly higher than the other two primary mutations, in addition, the mutations that have no light perception, light perception, finger count and hand movement are more concentrated in 11778 and 3460 mutations.6. Do Statistical analysis of the 100 hospitalized patients about their TCM syndromes:deficiency of liver-yin and kidney-yin accounted for 52%, stagnation of liver qi accounted for 25%, qi and blood deficiency accounted for 15%, qi stagnation and blood stasis accounted for 8%.Conclusion:During the three mutations, visual prognosis of 14484 point mutation was significantly higher than 11778 and 3460 mutations, while 11778 was the worst,3460 fell in between. For the patients of LHON, treating by Chinese medicine (TCM decoction or granular formulation, acupuncture, etc.), the TCM symptoms decreased significantly. |
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