Leber's hereditary optic neuropathy is a rare disease which presents with rapid, progressive optic neuropathy, classically in young men between 20 and 30 years of age, but occasionally in women. [gpnotebook.co.uk]

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. [icd10data.com]

Cardiac conduction defects are present in some patients. Some females have a multiple sclerosis-like neurologic illness. Genetics This disorder results from mutations in mitochondrial genes. [disorders.eyes.arizona.edu]

It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. [genome.jp]

Individuals typically present with bilateral and slow vision loss starting in the first or second decade of life. [eyewiki.aao.org]

• Scotoma

  A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. [icd10data.com]

  Visual field testing reveals a central or cecocentral scotoma and color vision defects. In the acute phase the disc can be swollen and hyperemic. [disorders.eyes.arizona.edu]

  Visual fields revealed a centrocecal scotoma smaller than 10 in both eyes. F igure 2. [iovs.arvojournals.org]

  Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye. [eyewiki.aao.org]

  Swelling of the optic nerve head, vascular tortuosity, peripapillary telangiectasia, microangiopathy and central scotomas on visual field testing are all signs of LHON. [orpha.net]

• Facial Pain

  This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.com]

• Liver Biopsy

  We have found a much reduced activity of this enzyme in liver biopsies from two affected males of a family with Leber's hereditary optic atrophy and in two isolated cases of the same disease, (compared to liver biopsies from controls or liver samples [ncbi.nlm.nih.gov]

Abstract Clinical findings in Leber's hereditary optic atrophy (LHOA) are reviewed and the results given of treatment with a regimen based on the hypothesis that the disease is a manifestation of cyanide toxicity. [ncbi.nlm.nih.gov]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.com]

Treatment depends on which disorder that you have. With some optic nerve disorders, you may get your vision back. With others, there is no treatment, or treatment may only prevent further vision loss. [icdlist.com]

Prognosis The age of symptom onset (younger patients having a more favorable prognosis) and the causative mutation (patients with MT-ND6 mutations showing highest recovery rates) are factors that determine the disease outcome. [orpha.net]

Diagnosis - Leber Hereditary Optic Neuropathy Prognosis - Leber Hereditary Optic Neuropathy Despite the severe visual impairment, some will gain some recovery of sight. The degree is highly variable and it is most likely with the 14484 mutation. [checkorphan.org]

Prognosis Prognosis, as stated above, may be related to which LHON mutation a patient harbors. Though those with T14484C may have a higher chance of spontaneous visual recovery, all individuals with LHON are subject to permanent visual loss. [eyewiki.aao.org]

Currently, the prognosis is usually a permanent and severe vision loss. Several researches are being performed in order to find a treatment for the disease. ICR has an ongoing study on it, which is currently in the selection phase. [icrcat.com]

Etiology and Pathophysiology Genetic etiologies usually involve defects in mitochondrial function. Exposure of retinal nerve cells to light normally results in the generation of free radical species. [unboundmedicine.com]

Mitochondrial disease--its impact, etiology, and pathology. Curr Top Dev Biol 2007;77:113–155. 15. Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. [synapse.koreamed.org]

Etiology LHON is caused by mutations in the mitochondrial DNA (mtDNA). Over 90% have been identified to occur at nucleotide positions 11778, 3460 or 14484. [orpha.net]

(Etiology) Leber Hereditary Optic Neuropathy is a genetic disorder. It is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L and MT-ND6 genes. [dovemed.com]

The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003;72:333–339. 3. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. [synapse.koreamed.org]

Summary Epidemiology Prevalence of the disease is not well known but is estimated at 1/15,000 - 1/50,000 people worldwide. Clinical description Sudden, painless, acute or subacute central vision loss is often noted between the ages of 18 to 30. [orpha.net]

Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996;74(1):3-7. Votruba M, Fitzke FW, Holder CE, Carter A, Bhattacharya SS, Moore AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. [eyewiki.aao.org]

"Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland". Eur. J. Hum. Genet. 15 (10): 1079–89. doi : 10.1038/sj.ejhg.5201828. PMID 17406640. Laberge AM, Jomphe M, Houde L, et al. (2005). [en.wikipedia.org]

Hereditary optic neuropathies and a proposed common pathophysiology through mitochondrial dysfunction. [eyewiki.aao.org]

The possible pathophysiological basis for the effect of smoking on triggering visual loss in LHON is nicely reviewed in the Kirkman et al ., ( 2009 ) article, and probably relates to the deleterious effects of smoking on various aspects of mitochondrial [academic.oup.com]

Table 3 Respiratory chain dysfunction in LHON PATHOPHYSIOLOGY These functional studies also raise important issues regarding the pathophysiology of LHON (fig 2). The most obvious one relates to the focal degeneration of the optic nerve. [jmg.bmj.com]

Etiology and Pathophysiology Genetic etiologies usually involve defects in mitochondrial function. Exposure of retinal nerve cells to light normally results in the generation of free radical species. [unboundmedicine.com]

With others, there is no treatment, or treatment may only prevent further vision loss. [icdlist.com]

Symptoms - Leber Hereditary Optic Neuropathy Causes - Leber Hereditary Optic Neuropathy Prevention - Leber Hereditary Optic Neuropathy Leber hereditary optic neuropathy cannot be prevented. [checkorphan.org]

At present, the best defense is early diagnosis, because, if the cause can be found and corrected, further damage can be prevented. [emedicine.medscape.com]

How can Leber Hereditary Optic Neuropathy be Prevented? Currently, there are no specific methods or guidelines to prevent Leber Hereditary Optic Neuropathy, since it is a genetic condition. [dovemed.com]

Treatment of optic atrophy and degeneration is aimed at correcting the underlying condition to prevent further… Read More [britannica.com]