Leber’s hereditary optic neuropathy
case report and literature review
Keywords:
Optic neuropathy, Optic nerve diseases, Optic atrophy, Mitochondrial DNA, Visual acuityAbstract
CONTEXT: Leber’s hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber’s hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber’s hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber’s hereditary optic neuropathy.
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References
Kerrison JB. Hereditary optic neuropathies. Ophthalmol Clin North Am. 2001;14(1):99-107.
Riordan-Eva P, Sanders MD, Govan GG, Sweeney MD, Da Costa J, Harding AE. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mito- chondrial DNA mutation. Brain. 1995;118(Pt 2):319-37.
Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics. 2001;3(3):119-25.
Yamada K, Mashima Y, Kigasawa K, Miyashita K, Wakakura M, Oguchi Y. High incidence of visual recovery among four Japanese patients with Leber’s hereditary optic neuropathy with the 14484 mutation. J Neuroophthalmol. 1997;17(2):103-7.
Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet. 2001;104(4):331-8.
Mashima Y, Yamada K, Wakakura M, et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber’s hereditary optic neuropathy. Curr Eye Res. 1998;17(4):403-8.
Yen MY, Wang AG, Chang WL, Hsu WM, Liu JH, Wei YH. Leber’s hereditary optic neuropathy – the spectrum of mitochon- drial DNA mutations in Chinese patients. Jpn J Ophthalmol. 2002;46(1):45-51.
Biousse V, Brown MD, Newman NJ, et al. De novo 14484 mitochondrial DNA mutation in monozygotic twins dis- cordant for Leber’s hereditary optic neuropathy. Neurology. 1997;49(4):1136-8.
Sadun AA, Carelli V, Salomão SR, et al. Extensive investi- gation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2003;136(2):231-8.
Chinnery PF, Andrews RM, Turnbull DM, Howell NN. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet. 2001;98(3):235-43.
Vanopdenbosch L, Dubois B, D’Hooghe MB, Meire F, Carton H. Mitochondrial mutations of Leber’s hereditary optic neuropathy: a risk factor for multiple sclerosis. J Neurol. 2000;247(7):535-43.
Pénisson-Besnier I, Moreau C, Jacques C, Roger JC, Dubas F, Reynier P. Sclérose en plaques et mutations de l’ADN mito- chondrial associées à la maladie de Leber. [Multiple sclerosis and Leber’s hereditary optic neuropathy mitochondrial DNA mutations]. Rev Neurol (Paris). 2001;157(5):537-41.
Kalman B, Lublin FD, Alder H. Mitochondrial DNA mutations in multiple sclerosis. Mult Scler. 1995;1(1):32-6.
Mojon DS, Herbert J, Sadiq SA, Miller JR, Madonna M, Hirano M. Leber’s hereditary optic neuropathy mitochondrial DNA mutations at nucleotides 11778 and 3460 in multiple sclerosis. Ophthalmologica. 1999;213(3):171-5.
Mashima Y, Kigasawa K, Wakakura M, Oguchi Y. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuroophthalmol. 2000;20(3):166-70.
Cortelli P, Montagna P, Pierangeli G, et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber’s hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci. 1997;148(1):25-31.
Nakamura M, Yamamoto M. Variable pattern of visual recov- ery of Leber’s hereditary optic neuropathy. Br J Ophthalmol. 2000;84(5):534-5.
