Visual recovery patterns in children with Leber's hereditary optic neuropathy

被引:19
作者
Acaroǧlu G. [1 ]
Kansu T. [2 ]
Doǧulu C.F. [3 ]
机构
[1] Social Security Eye Hospital, Neuro-Ophthalmol./Orbital Dis. Unit, Ankara
[2] Department of Neurology, Hacettepe Univ. School of Medicine, Neuro-Ophthalmology Unit, Ankara
[3] Hacettepe University, Inst. of Neurol. Sci. and Psychiatry, Ankara
关键词
Leber's hereditary optic neuropathy; Visual fields; Visual recovery;
D O I
10.1023/B:INTE.0000006855.48323.f1
中图分类号
学科分类号
摘要
Three patients with Leber's hereditary optic neuropathy (LHON) showed spontaneous improvement in visual acuities after months of legal blindness. Two male patients with bilateral subacute visual loss were 14 years of age at presentation. The first male patient had a mitochondrial DNA mutation at nucleotide position 11778. The second male patient was found to be negative for the designated primary mutations (11778, 14484, 3460) and two of the secondary mutations (15257, 9804). The third patient was a 20-year-old female who presented with bilateral optic atrophy. She had been diagnosed as LHON and was found positive for the 3460 mutation when she was 15. These patients' pattern of visual recovery by developing small islands of normal vision within a central scotoma is characteristic in such rare cases of LHON.
引用
收藏
页码:349 / 355
页数:6
相关论文
共 15 条
[1]  
Newman N.J., The hereditary optic neuropathies, Walsh and Hoyt's Clinical Neuroophthalmology, 1, pp. 742-744, (1998)
[2]  
Kerrison J.B., Hereditary optic neuropathies, Ophthal Clin North Am, 14, 1, pp. 99-107, (2001)
[3]  
Riordan-Eva P., Sanders M.D., Govan G.G., Sweeney M.G., Et al., The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation, Brain, 118, pp. 319-337, (1995)
[4]  
Mackey D., Three subgroups of patients from the United Kingdom with Leber's hereditary optic neuropathy, Eye, 8, pp. 431-436, (1994)
[5]  
Nakamura M., Yamamato M., Variable pattern of visual recovery of Leber's hereditary optic neuropathy, Br J Ophthalmol, 84, pp. 534-535, (2000)
[6]  
Leo-Kottler B., Jacobi F., Christ-Adler M., Leber's optic neuropathy with clinical improvement, Ophthalmologe, 97, 12, pp. 849-854, (2000)
[7]  
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Et al., Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, Science, 242, pp. 1427-1430, (1988)
[8]  
Blum M., Hykin P.G., Sanders M., Volcker H.E., Theodor Leber: A founder of ophthalmic research, Surv Ophthalmol, 37, 1, pp. 63-68, (1992)
[9]  
Minatogawa Y., Sugimoto A., Tatsumi K., Miyazaki S., Et al., Genetic screening of Leber's hereditary optic neuropathy by PCR with whole blood cell lysate, Neuro-Ophthalmology, 24, 1, pp. 261-266, (2000)
[10]  
Sadun A.A., Win P.H., Ross-Cisneros F.N., Walker S.O., Et al., Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve, Trans Am Ophthalmol Soc, 98, pp. 223-232, (2000)