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

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]

• Swelling

  Who has optic disc swelling — usually are going to have an anterior ischemic optic neuropathy. And the A just means anterior. There has to be disc swelling. So you can’t make this diagnosis in a patient who has no disc swelling. [cybersight.org]

  LHON with a slowly progressive course: Temporal optic atrophy with mild nerve fiber layer swelling of the other quadrant is detected in both eyes ( E, F ). F igure 2. [iovs.arvojournals.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]

  Optic neuritis, an inflammation (swelling) of the optic nerve caused by multiple sclerosis. A hereditary condition in which the person experiences loss of vision first in one eye, and then in the other (known as Leber's hereditary optic neuropathy). [my.clevelandclinic.org]

• 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]

  Loss of vision due to LHON does not cause any eye pain, but it is quite an alarming experience as the loss of central vision presents suddenly and can progress quite quickly, leaving only peripheral vision. [fightingblindness.ie]

  That’s either pain or weakness with chewing. It’s not pain with the first bite, but it’s pain when they use the muscles of mastication, or weakness. It can just be trouble chewing. So you have to be sure. They say there’s no pain. [cybersight.org]

  He neither had the above-mentioned symptoms nor had joint pains, skin rash, or other clinical or laboratory features of systemic lupus erythematosus. He did not use tobacco and alcohol, which can lead to tobacco–alcohol amblyopia syndrome. [annalsofian.org]

  The patients signs and symptoms are often confused with optic neuritis, except for the lack of pain. Some patients may discover visual loss by incidentally covering the other eye, or by noting increasing difficulty with day to day tasks. [eyewiki.aao.org]

• Malnutrition

  […] nerve probably has some validity, as suggested not only by the current article in Brain (Kirkman et al ., 2009 ), but also from the results of investigations into the Cuban epidemic optic neuropathy in which tobacco use was an additive risk factor to malnutrition [academic.oup.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]

• Visual Impairment

  Note: If a child with ONA also has Cortical Visual Impairment (CVI), strategies effective with the CVI population should be used (see CVI Fact Sheet). [tsbvi.edu]

  Amy, has three children all of whom are visually impaired. Amy's brother has two sons who have normal vision. Given the family history and the clinical features you suspect Leber Hereditary Optic Neuropathy. [www2.kumc.edu]

  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]

  Impairment Service, Leber's Amaurosis. http://call-centre.cogsci.ed.ac.uk/SSC/VISPAGES/5/VIS576634. [www-personal.umd.umich.edu]

  Visual acuity remains static thereafter. Most will be registered as severely sight impaired for the rest of their lives, with a permanent large scotoma. [patient.info]

• Progressive Loss of Vision

  Bilateral, slowly progressive loss of vision; OPA1 gene on chromosome 3q28 ( 2 ) Autosomal recessive optic atrophy: OPA6 gene, rare ( 2 ) Optic atrophies associated with complex genetic disorders: Disorders of amino acid metabolism Hyperhomocysteinemia [unboundmedicine.com]

• Tremor

  Some affected individuals with “LHON Plus” exhibit additional symptoms that include tremors, impaired movement owing to muscle weakness and lack of coordination, and abnormalities of electrical conductivity in the heart Some potential complications of [dovemed.com]

  Common symptoms include vision loss as well as less commonly tremor or a shaking, heartbeat irregularities, and a multiple sclerosis like condition. Leber hereditary optic neuropathy is inherited in a mitochondrial pattern. [thinkgenetic.com]

  LHON plus syndromes include MS-like syndrome, tremor, parkinsonism, dystonia, peripheral neuropathies, and cardiac arrhythmias. [neurology.org]

  In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). [icdlist.com]

  Systemic Features: A large number of associated neurologic abnormalities have been reported including ataxia, hyperreflexia, nonspecific myopathy, tremors, movement disorders, dystonia, and a peripheral neuropathy. [disorders.eyes.arizona.edu]

• Paresis

  Both siblings had a metabolic disorder characterized by transient episodes of ataxia and paresis, whereas in one brother a slight increase of lactate in blood and cerebrospinal fluid was detected during an acute episode. [ncbi.nlm.nih.gov]

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

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]

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]

(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]

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]

Language, characterized by either a nonfluent aphasia with anomia (primary progressive aphasia) or fluent aphasia with early loss of word meaning (semantic dementia) 1 New developments in comprehending the pathophysiology of FTD have suggested that the [practicalneurology.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]