Non-Leber type optic atrophy with early-onset OPA2 Optic atrophy type 2 Prevalence: Inheritance: X-linked recessive Age of onset: Childhood ICD-10: H47.2 OMIM: 311050 UMLS: C1839576 MeSH: - GARD: 10199 MedDRA: - The documents contained in this web site are presented [orpha.net]

A standard nonlinear click stimulus of 80 µs duration was presented at a repetition rate of 50 Hz and an intensity of 80 ( 3) dB SPL. [molvis.org]

Adrenal insufficiency, sepsis, and dehydration may, however, also present with similar laboratory findings. Ketosis with hyperglycemia is present in diabetic ketoacidosis. [mrineonatalbrain.com]

Patients with retinal telangiectasia may present with retinopathy. In younger patients this is referred to as Coats disease. [neuroweb.us]

• Camping

  [PMID: 14635104] Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. [molvis.org]

  Ann Neurol. 2008; 63 :667–71. [ PubMed : 18360822 ] Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. [ncbi.nlm.nih.gov]

  Smith RHJ, Shearer AE, Hildebrand MS, Van Camp G. Deafness and hereditary hearing loss overview. GeneReviews [Internet]. RA Pagon, MP Adam, HH Ardinger, et al., eds. Seattle, WA: University of Washington, Seattle; updated January 9, 2014. [aetna.com]

• Progressive Hearing Loss

  Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). [ncbi.nlm.nih.gov]

• Slurred Speech

  All affected males have evidence of damage to the optic nerve and some have other neurologic signs such as tremor, slurred speech, and unsteadiness but these are usually mild symptoms. Mental retardation has been noted in a few patients. [disorders.eyes.arizona.edu]

This workup should include a Westergren erythrocyte sedimentation rate (ESR) in conjunction with a C-reactive protein test. 15-17 Neither ESR nor CRP is specific for GCA, but both can indicate acute inflammatory activity. [reviewofoptometry.com]

276 1552 Symptomatic Treatment 277 156 Differential Diagnosis 278 1563 Congenital Fibrosis of the Extraocular Muscles 279 Treatment of Specific Types of Nystagmus 283 161 Introduction 284 16211 Etiology 286 16212 Therapeutic Recommendations 287 1622 [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

No treatment is available for the optic nerve damage but low vision aids can be helpful for everyday tasks. [disorders.eyes.arizona.edu]

Treatment focuses on individual symptoms when possible. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]

Diagnosis and Prognosis: The diagnosis is usually made by an ophthalmologist or sometimes by a neurologist. The prognosis is highly variable but once the optic nerve is damaged, the vision loss is not reversible. [disorders.eyes.arizona.edu]

Ischemic Visual Loss 235 1335 Orbital Manifestations 236 1343 LargeVessel Vasculitis 237 135 Laboratory Investigations in GCA 238 1352 CReactive Protein 239 1355 Anemia 240 1361 Temporal Artery Biopsy 241 1363 Role of Ultrasound 243 137 Treatment and Prognosis [books.google.com]

(See 'Prognosis' above and 'Treatment' above.) SCA3, also known as Machado-Joseph disease, is the most common type of SCA (table 1). SCA types 9 through 36 are rare and less well characterized. (See 'Classification of SCA' above.) [es.slideshare.net]

[…] syndrome clinically and radiologically indistinguishable from multiple sclerosis, but whether the concurrence of these events exceeds the incidence expected by chance alone remains unresolved, particularly as an underlying LHON mutation may worsen the prognosis [slideplayer.com]

With time, the nerve becomes atrophic as the edema and hemorrhages resolve, and the visual prognosis remains very poor. In measurable eyes, altitudinal or central visual field defects are common. [reviewofoptometry.com]

274 1541 Myohistological Investigations 275 155 Treatment 276 1552 Symptomatic Treatment 277 156 Differential Diagnosis 278 1563 Congenital Fibrosis of the Extraocular Muscles 279 Treatment of Specific Types of Nystagmus 283 161 Introduction 284 16211 Etiology [books.google.com]

IIH is a disease of unknown etiology that primarily affects obese women of childbearing age (20 to 44 years). 18 Bilateral papilledema is a hallmark sign of the disease. [reviewofoptometry.com]

CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology [molecularvisionlab.com]

Other “mitochondrial” optic neuropathies 4 5 History First defined as a clinical entity by the German ophthalmologist Theodore Leber in 1871, LHON was the first human disease to be etiologically linked to a point mutation in mtDNA. 6 epidemiology It is [slideplayer.com]

--- Other case reports and molecular studies are essential to circumvene etiological mechanisms in those malformation syndromes with susceptibility to cancer. 1.5.10 Paternity A false paternity may sometimes be at the origin of an incomplete or incorrect [atlasgeneticsoncology.org]

DOA - Optic atrophy - deafness- polyneuropathy - myopathy Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the ear and mastoid process - Epidemiological [csbg.cnb.csic.es]

Other “mitochondrial” optic neuropathies 4 5 History First defined as a clinical entity by the German ophthalmologist Theodore Leber in 1871, LHON was the first human disease to be etiologically linked to a point mutation in mtDNA. 6 epidemiology It is [slideplayer.com]

[Abildgaard 2013] [Blaak 2001] [Power 2007] Interesting epidemiological observations show a low incidence of primary open angle glaucoma in Inuit and Asians. [ifond.org]

Epidemiology The exact incidence and prevalence of nystagmus is not known but it is thought to occur in about 1 in 1,000 people. [patient.info]

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. J Hum Genet. 2006; 51: 851–856. pmid:16972023 View Article PubMed/NCBI Google Scholar 31. [journals.plos.org]

"Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy". Journal of Medical Genetics. 35 (10): 793–800. doi : 10.1136/jmg.35.10.793. PMC 1051452. PMID 9783700. External links [ edit ] [en.wikipedia.org]

Pathophysiology [ 1 ] The ocular motor system consists of the vestibular ocular nystagmus saccade system, the pursuit system, the fixation and gaze-holding system and the vergence system. [patient.info]

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology. Neurobiol Dis. 2016; 90: 20–26. pmid:26311407 View Article PubMed/NCBI Google Scholar 48. MacVicar T, Langer T. [journals.plos.org]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D. [rarediseases.org]

Diffusion weighted MR findings support the metabolic rather than the ischemic pathophysiological hypothesis for stroke-like episodes occurring in MELAS. [neuroweb.us]

It is the leading cause of preventable blindness worldwide. [tsbvi.edu]

It is important for family members to be tested because changes in lifestyle and diet may help prevent the onset of LHON. [ifond.org]

Mohr-Tranebjaerg syndrome XLR 3 TMEM126A 612988 Optic Atrophy 7 AR 0 WFS1 606201 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome AD, AR 17 To date, there is no preventative [centogene.com]

250mg every six hours for 12 doses is common, and oral maintenance doses remain high (80 to 120mg/ day) until symptoms disappear or the ESR is reduced. 13 The treatment course is long, and tapering must be extremely slow, often over one to two years, to prevent [reviewofoptometry.com]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]