Remarkable Recovery of Visual Function in a Patient with Leber's Optic Neuropathy and Multiple Mutations of Mitochondrial DNA

1994 ◽  
Vol 77 (3-4) ◽  
pp. 261-266 ◽  
Author(s):  
Andrea Salmaggi ◽  
Franco Carrara ◽  
Massimo Zeviani
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Visual Function ◽  
Remarkable Recovery ◽  
Leber’S Optic Neuropathy

Leber Hereditary Optic Neuropathy - Idebenone, Hope of Treatment

2020 ◽  
Vol 70 (12) ◽  
pp. 4244-4247
Keyword(s):  
Mitochondrial Dna ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Mitochondrial Function ◽  
Dna Analysis ◽  
Central Vision ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Analysis ◽  
Hereditary Optic Neuropathy

Leber hereditary optical neuropathy (LHON) is part of the class of optic neuropathies in which the mitochondrial function is impaired and is characterized by a painless, subacute, bilateral decrease of the central vision. We shall present the case of two brothers AM aged 31 and AT aged 40 who were diagnosed with LHON and whom we initiated treatment with idebenone 900 mg / day with monitoring at one month and 6 months. The mitochondrial DNA analysis demonstrated the existence of mutations 11778G>A for the mtND4 gene in both patients. Idebenone is a synthetic benzoquinone, analogue of ubiquinone. We found a slight but significant improvement in the visual field in patient AM at one month of treatment. We have not found another case in the literature with an improvement in vision so fast after this treatment, and this has led us to write this article. Keywords: Leber hereditary optical neuropathy (LHON), idebenone, mutations 11778G>A, mtND4 gene

VISUAL FUNCTION IMPROVEMENT WITH EXPERIMENTAL THERAPY IN MITOCHON DRIAL OPTIC NEUROPATHY

1994 ◽  
Vol 71 (Supplement) ◽  
pp. 114
Author(s):  
Jerome Sherman ◽  
Ivan Bodis-Wollner ◽  
Neil Howell
Keyword(s):  
Optic Neuropathy ◽  
Visual Function ◽  
Experimental Therapy

Zinc Deficiency, Acrodermatitis Enteropathica, Optic Atrophy, Subacute Myelo-optic Neuropathy, and 5,7-Dihalo-8-quinolinols

PEDIATRICS ◽  
1980 ◽  
Vol 65 (3) ◽  
pp. 610-613
Author(s):  
Frank M. Sturtevant
Keyword(s):  
Zinc Deficiency ◽  
Optic Neuropathy ◽  
Optic Atrophy ◽  
Visual Function ◽  
Drug Toxicity ◽  
Acrodermatitis Enteropathica ◽  
Alternate Hypothesis

Acrodermatitis enteropathica, a heritable disease of zinc deficiency, was formerly amenable to treatment only with dihaloquinolinol drugs. A few cases of optic atrophy were reported in surviving patients and were proposed as examples of ocular drug toxicity, principally because of the association between iodochlorhy-droxyquin and subacute myelo-optic neuropathy (SMON) in Japan. An alternate hypothesis is now offered: that the optic atrophy was secondary to the zinc deficiency, which is consistent with diverse evidence cited from the literature. Therefore, it would seem worthwhile to investigate zinc in cases of disk pallor described as idiopathic or drug associated, and to investigate visual function in cases of severe malnourishment.

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