Edit concept Question Editor Create issue ticket

Leber Hereditary Optic Neuropathy plus Disease

LHON plus Disease


Presentation

  • The chapters contributed by leading mitochondrial researchers in the handbook will take us through the novel pharmacological strategies via mitochondria to understand their physiological and pathological role as well as present them as therapeutic targets[books.google.com]
  • In patients presenting with unilateral symptoms, formal visual field testing may display subclinical visual deficits in the fellow, seemingly unaffected eye. Reduced contrast sensitivity and subnormal electroretinogram are also present.[eyewiki.aao.org]
  • This rare presentation of the disease was named " LHON plus syndromes ." Case presentation: A 15-year-old boy who was completely healthy until age 9, when he gradually developed painless visual loss in his right eye.[imminv.com]
  • Besides the common symptoms described above for Leigh syndrome, retinitis pigmentosa is often present and an important diagnostic clue.[rarediseasesnetwork.org]
Vascular Disease
  • Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases.[books.google.com]
Photosensitivity
  • Neurogastrointestinal Encephalomyopathy 221 Leigh Syndrome and Mitochondrial Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity[books.google.com]
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]
Phenylketonuria
  • Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity 268 PelizaeusMerzbacher Disease and Xlinked Spastic Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria[books.google.com]

Workup

  • After an extensive workup he was found to have the 14484 mutation for LHON. He continued to decline leaving him wheelchair bound and without any useful vision.[neurology.org]

Treatment

  • 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]
  • […] issues and scam treatments.[lhonsociety.org]
  • Phase 3 6 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652767 Phase 3 7 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary[malacards.org]
  • 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.[medlineplus.gov]

Prognosis

  • It addresses diagnosis, pathophysiology, management and prognosis and is written in a clear, concise style for quick, easy reference in the clinic.[books.google.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]

Etiology

  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.com]
  • 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]
  • Etiology LHON is classically associated with mitochondrial base pair mutations G11778A (guanine to adenine at position 11778), T14484C (tyrosine to cytosine), and G3460A.[eyewiki.aao.org]

Epidemiology

  • The epidemiology of Leber hereditary optic neuropathy in the northeast of England. Am J Hum Genet. 2003;72:333-9. Horvath R, Abicht A, Scoubridge EA, et al.[rarediseases.org]
  • Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet. 2007 Oct;15(10):1079-89. PMID 17406640 Laberge AM, Jomphe M, Houde L; et al. (2005).[wikidoc.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]
  • Epidemiology In Northern European populations about one in 9000 people carry one of the three primary LHON mutations. [ 6 ] [ 7 ] There is a prevalence of between 1:30,000 to 1:50,000 in Europe.[thefullwiki.org]
Sex distribution
Age distribution

Pathophysiology

  • It addresses diagnosis, pathophysiology, management and prognosis and is written in a clear, concise style for quick, easy reference in the clinic.[books.google.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]
  • The degree of heteroplasmy, the percentage of mitochondria which have mutant alleles, may play a role. [11] Patterns of mitochondrial alleles called haplogroup may also affect expression of mutations. [12] Pathophysiology The eye pathology is limited[wikidoc.org]
  • Pathophysiology Mitochondrial mutations cause defects in several NADH-ubiquinone oxidoreductase chains. This is thought to impair glutamate transport and increase reactive oxygen species production.[eyewiki.aao.org]
  • The degree of heteroplasmy, the percentage of mitochondria which have mutant alleles, may play a role. [ 11 ] Patterns of mitochondrial alleles called haplogroup may also affect expression of mutations. [ 12 ] Pathophysiology The eye pathology is limited[thefullwiki.org]

Prevention

  • Symptoms - Leber Hereditary Optic Neuropathy Causes - Leber Hereditary Optic Neuropathy Prevention - Leber Hereditary Optic Neuropathy Leber hereditary optic neuropathy cannot be prevented.[checkorphan.org]
  • 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]
  • With others, there is no treatment, or treatment may only prevent further vision loss.[medlineplus.gov]
  • Screening and prevention of colorectal cancer Source: Finnish Medical Society Duodecim This article is freely available only to users in the UK.[evidence.nhs.uk]
  • Using experimental models, they have proven that it is both safe and effective to replace mutated genes with healthy ones and that doing so prevents deterioration of the retinal cells that form the optic nerve.[news-medical.net]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!