Disease relevance of Optic Nerve Diseases

• The mutation in tRNA(Asn) was associated with isolated ophthalmoplegia, whereas the mutation in tRNA(Leu(UUR)) caused a neurological syndrome resembling MERRF (myoclonus epilepsy and ragged-red fibers) plus optic neuropathy, retinopathy, and diabetes [1].
• A subgroup of MS patients, particularly females with severe bilateral visual failure due to optic neuropathy, may harbor a Leber's hereditary optic neuropathy mutation and we suggest that mtDNA analysis is appropriate in these patients [2].
• Juvenile Open Angle Glaucoma (GLC1A) is an autosomal optic neuropathy that has been localized previously to chromosome 1q [3].
• Given the clinical similarities of subnormal vitamin B12, LHON, and nutritional/tobacco amblyopia, deficiency of adenosine triphosphate might be a unifying etiology for several types of optic neuropathy [4].
• METHODS: A case of a 27-year-old man with vitamin B12 deficiency and the 14,484 mitochondrial DNA mutation is presented and the literature on causes of some metabolic optic neuropathies reviewed [4].

High impact information on Optic Nerve Diseases

• Optic neuropathy associated with rapid tightening of blood glucose control [5].
• Hydroxycobalamin for ethambutol-induced optic neuropathy [6].
• It is shown here, however, that neither this biochemical lesion nor the optic neuropathy are due to the mutation at nucleotide position 11,778 of the mitochondrial ND4 gene first identified by Wallace et al. in several LHON pedigrees [7].
• Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy [8].
• SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I [9].

Chemical compound and disease context of Optic Nerve Diseases

• Toluene optic neuropathy [10].
• Chlorpropamide-induced optic neuropathy [11].
• Retrolaminar demyelinating optic neuropathy is an early morphologic correlate of visual loss in methanol intoxication [12].
• Adenosine triphosphate deficiency: a genre of optic neuropathy [4].
• Furthermore, aminoguanidine treatment did not affect the development of pressure-induced optic neuropathy in the rat [13].

Biological context of Optic Nerve Diseases

• Peak intraocular pressure (IOP) did not differ significantly between the two groups of families, while linkage to GLC1A conferred a highly increased risk of developing OAG and of having severe glaucomatous optic neuropathy [14].
• Aside from visual acuity, other visual functions of the recovered ethambutol optic neuropathy patients were incomplete [15].
• In this article we describe three patients from a single electrophysiology practice in whom optic neuropathy developed during treatment with amiodarone [16].
• Use of contrast sensitivity measurement in the detection of subclinical ethambutol toxic optic neuropathy [17].
• Acute optic neuropathy induced by thinner sniffing: inhalation of mixed organic solvent containing methyl alcohol and methyl acetate [18].

Anatomical context of Optic Nerve Diseases

• Previous studies have reported an association between Leber's optic neuropathy and deficiency of rhodanese activity in liver and rectal mucosa [19].
• Glaucomatous optic neuropathy is a common blinding disease characterized by remodeling of the extracellular matrix (ECM) and loss of retinal ganglion cell (RGC) axons at the level of the optic nerve head (ONH) [20].
• The spectrum of clinical disease was variable but two groups could be identified: patients with chronic progressive visual loss which was associated with thickening of the optic nerve and was refractory to steroid treatment, and patients with acute or subacute optic neuropathy in which the visual loss responded rapidly to steroids [21].
• Zn-deficiency induce a decrease of myelinated nerve fibers, and it is thought that optic neuropathy in patients treated with some drugs such as ethambutol may be a secondary change due to Zn-deficiency following drug administration [22].
• Three patients with cystic fibrosis of the pancreas initially were seen because of optic neuropathy caused by a toxic reaction to chloramphenicol [23].

Gene context of Optic Nerve Diseases

• This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations [24].
• The sparse presence of COX-2 in glaucomatous tissue probably reflects the lack of inflammation associated with glaucomatous optic neuropathy [25].
• Elevated plasma levels of interleukin 8 in patients with acute anterior ischaemic optic neuropathy [26].
• Therefore, identification of glaucoma-causing genes such as Myocilin, Optineurin, and others could provide molecular diagnostic tools for this category of optic neuropathy [27].
• PURPOSE: Endothelin (ET)-1 can produce nerve damage analogous to that in optic neuropathies such as glaucoma [28].

Analytical, diagnostic and therapeutic context of Optic Nerve Diseases

• CASE REPORT: A case history of unanticipated radiation-induced bilateral optic neuropathy, 18 months after induction chemotherapy and radiation therapy for a locally advanced nasopharyngeal carcinoma, is presented [29].
• One patient presented with radiation induced optic neuropathy (SOMA Grade 3) and retinopathy (SOMA Grade 2) 8.8 and 30.4 months after treatment, respectively [30].
• PURPOSE: To map and identify the pattern, in vivo, of axonal degeneration in ethambutol-induced optic neuropathy using optical coherence tomography (OCT) [31].
• We studied 12 patients who had optic neuropathy by posterior vitreous fluorophotometry, with and without correction for blood fluorescein concentration [32].
• DISCUSSION: Cyclosporin A given after bone marrow transplantation may have caused bilateral optic neuropathy in our patient [33].

References