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Show Original Contribution ND1 m.3635G.A mutation in nine Han Chinese families. Mitochondrion. 2014;18:18-26. 27. Li R, Qu J, Zhou X, Tong Y, Hu Y, Qian Y, Lu F, Mo JQ, West CE, Guan MX. The mitochondrial tRNA Thr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene. 2006;376:79-86. 28. Zhang M, Zhou X, Li C, Zhao F, Zhang J, Yuan M, Sun YH, Wang J, Tong Y, Liang M, Yang L, Cai W, Wang L, Qu J, Guan MX. Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation. Mol Genet Metab. 2010;101:192-199. 29. Zhang J, Zhou X, Zhou J, Li C, Zhao F, Wang Y, Meng Y, Wang J, Yuan M, Cai W, Tong Y, Sun YH, Yang L, Qu J, Guan MX. Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families. Biochem Biophys Res Comm. 2010;399:647-653. 30. Wong A, Cavelier L, Collins-Schramm HE, Seldin MF, McGrogan M, Savontaus ML, Cortopassi GA. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet. 2002;11:431-438. 31. Feuer WJ, Schiffman JC, Davis JL, Porciatti V, Gonzalez P, Koilkonda RD, Yuan H, Lalwani A, Lam BL, Guy J. Gene therapy for Leber hereditary optic neuropathy: initial results. Ophthalmology. 2016;123:558-570. 32. Guy J, Feuer WJ, Davis JL, Porciatti V, Gonzalez PJ, Koilkonda RD, Yuan H, Hauswirth WW, Lam BL. Gene therapy for Leber hereditary optic neuropathy: low- and medium-dose visual results. Ophthalmology. 2017;124:1621-1634. Images in Neuro-Ophthalmology Spontaneous haematoma of varicose superior ophthalmic vein secondary to indirect carotid-cavernous sinus fistula A. Spontaneous left superior eyelid hematoma as clinical debut. B. Angio-CT 3D Reconstruction of left orbit. Varicose superior ophthalmic vein is seen beneath the orbit roof. Dilated left angular/facial vein is also seen. C. Angio-CT axial scan: Early arterial enhancement of the left cavernous sinus (arrowhead) associated with enlarged and dilated left superior ophthalmic vein passing through the superior orbital fissure. (Courtesy of Maria del Mar Schilt-Catafal MD, Félix PastorEscartín DO, Paulina Neira-Ibáñez MD, Laura Manfreda-Dominguez MD, and Antonio Duch-Samper MD, PhD, València, Spain). Yang et al: J Neuro-Ophthalmol 2020; 40: 22-29 29 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. |