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

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]

When he presented to us, he had already been losing vision similarly in his left eye for about 2 months. His pupils were equal in size. Direct and consensual light reflex was present on both sides. [annalsofian.org]

Design/Methods: We describe a 48-year-old female who presented with a two year history of progressive bilateral painless vision loss. She has extensive maternal family history of idiopathic early onset blindness. [neurology.org]

For their study, researchers used FreeSurfer, an automated freeware tool, to measure cortical thickness in 28 pathologically-confirmed AD patients, 11 of whom had a typical amnestic presentation and 17 an atypical presentation during life, 23 pathologically [practicalneurology.com]

• Scotoma

  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]

  Visual field testing shows an enlarging central scotoma. Fluorescein angiography may be useful in the acute phase. [patient.info]

• 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]

[…] issues and scam treatments. [lhonsociety.org]

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

Until recently, there was no treatment indicated for LHON. [santhera.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]

Prognosis [ 14, 15 ] In the acute phase, patients describe a loss of colour vision in one eye, followed by a painless subacute decrease in central visual acuity, accompanied by an enlarging central scotoma. [patient.info]

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]

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992;51:1218-28. 12. Flanigan KM, Johns DR. [meajo.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]

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]

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]

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]

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