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Leber Hereditary Optic Neuropathy and longitudinally extensive transverse myelitis


Bursle, C and Riney, K and Stringer, J and Moore, D and Gole, G and Kearns, LS and Mackey, DA and Coman, D, Leber Hereditary Optic Neuropathy and longitudinally extensive transverse myelitis, Journal of Inherited Metabolic Disease Reports, 42 pp. 53-60. ISSN 2192-8312 (2017) [Refereed Article]

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DOI: doi:10.1007/8904_2017_79


Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications. The m.14484T>C mutation is a common LHON mutation, but the m.4160T>C mutation is to our knowledge not reported outside this family and appears to drive the neurological manifestations. To our knowledge there have been no previous reports of spinal cord lesions in children with LHON.

Item Details

Item Type:Refereed Article
Keywords:Leber Hereditary Optic Neuropathy, LHON plus, longitudinally extensive transverse myelitis, mitochondrial, myelopathy, transverse myelitis
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Vision science
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biomedical and clinical sciences
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:150481
Year Published:2017
Deposited By:Menzies Institute for Medical Research
Deposited On:2022-06-16
Last Modified:2022-06-16

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