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T. Lam, V. Carelli, S. Salomao, R. Belfort, A. Berezovsky, P. Quiros, F. Sadun, A.M. DeNegri, J. Sherman, A.A. Sadun; Circulating Antioxidants, Lipid Peroxidation Products, Cytokines and Neuron-specific Enolase in Leber’s Hereditary Optic Neuropathy (LHON) Patients . Invest. Ophthalmol. Vis. Sci. 2003;44(13):938.
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Purpose: To explore indicators of injury to the inner retina and optic nerve in LHON patients. Methods: Serum and plasma samples were collected from 43 subjects: 15 male affected, 6 non-affected male carriers, 5 normal male, 2 female affected, 11 female carriers, 4 normal female from a Brazilian population previously examined for LHON. All patients were part of a previously described giant Brazilian pedigree demonstrated by molecular analysis to be 11778 mtDNA with J-haplogroup. Commercially available assay kits were used to determine circulating levels of total antioxidant, lipid peroxidation products, interleukin-3 (IL-3), tumor necrosis factor – alpha (TNF-α) and neuron-specific enolase (NSE). Comprehensive ophthalmologic and neuro-ophthalmologic examinations were performed on these individuals. Results: There were no significant differences in circulating levels of total antioxidants, lipid peroxidation products, IL-3 and TNF-α. However, ANOVA test followed by Dunn’s pairwise test reviewed significant elevation of circulation NSE levels in male carriers when compared to the male normal controls. These carriers also showed evidence of subtle subclinical abnormalities such as Tritan color deficiency and prolonged latencies in pattern reversal VEP. Conclusions: NSE may be a good indicator of retinal ganglion cell and optic nerve stress/degeneration. There were no indications of oxidative stress and or cytokines upregulation, such as TNF-α and/or IL-3 as important factors for the development of visual impairment in LHON.
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