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Autosomal Dominant Optic Atrophy - Hearing Loss - Peripheral Neuropathy Syndrome

DOA+


Presentation

  • Individuals typically present with bilateral and slow vision loss starting in the first or second decade of life.[eyewiki.aao.org]
  • Figure A ) The median age of onset of the symptoms and complications of Wolfram syndrome are presented with different curves and the intersections with the x-axis. [1].[diapedia.org]
  • In our family, the presentation of the optic atrophy and the bilateral progressive sensorineural hearing loss is similar to the presentation of the families with autosomal dominant optic neuropathy and deafness and a mutation in OPA1.[molvis.org]
  • Presentation [ edit ] Autosomal dominant optic atrophy can present clinically as an isolated bilateral optic neuropathy (non-syndromic form) or rather as a complicated phenotype with extra-ocular signs (syndromic form).[en.wikipedia.org]
  • Recently a variant of OPA1 mutation with phenotypic presentation like Behr syndrome is also described.[checkrare.com]
Italian
  • […] amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian[csbg.cnb.csic.es]
Cat Scratch
  • 199 Chorioretinal Lesions in Infectious Diseases of Neuroophthalmic Interest 205 121 Introduction 206 ofToxoplasmosis in Immunocompetent Patients 207 12213 OphthalmicToxoplasmosis in AIDS Patients 209 1222 Toxocariasis 210 12233 Lyme Disease 211 1224 Cat[books.google.com]
Aphasia
  • LMNA-related cardiocutaneous progeria syndrome Laminopathy type Decaudain-Vigouroux Left ventricular noncompaction Lethal restrictive dermopathy Mandibuloacral dysplasia with type A lipodystrophy Progeria-associated arthropathy Progressive non-fluent aphasia[csbg.cnb.csic.es]
Hyporeflexia
  • Autosomal dominant inheritance - Insensitivity to pain - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensorineural deafness / hearing loss Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Areflexia / hyporeflexia[csbg.cnb.csic.es]
Ocular Flutter
  • Flutter 296 Rehabilitation in Neuroophthalmology 301 172 Psychophysics of Normal Reading 302 173 Diseases of the Visual Pathways and their Functional Deficits 303 Nerve Fiber Bundle Defects 305 1732 Optic Chiasmal Syndromes 307 17331 Hemianopic Reading[books.google.com]

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 286 16212 Therapeutic Recommendations 287 1622[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Treatment Treatment Options: No treatment is available for the neurological disease but low vision aids should be considered to selected patients especially during childhood educational activities.[disorders.eyes.arizona.edu]
  • Separate treatment options for associated disorders (e.g., diabetes mellitus or hypoparathyroidism) may be necessary. In some cases, treatment may include hormone replacement therapies.[rarediseases.org]

Prognosis

  • 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]
  • Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993;115:360-7. 5. Kline LB, Glaser JS. Dominant optic atrophy. The clinical profile. Arch Ophthalmol 1979;97:1680-6. [ PUBMED ] 6.[ijo.in]
  • Variants exist with only partial features, and prognosis is mainly linked to the severity of the neurological symptoms.[diapedia.org]
  • […] lenses of the eye are small, spherical and prone to subluxation Ectopia lentis (partial displacement of the lens) which leads to lenticular myopia Iridonesis (an iris that is not held in place by the lens) Glaucoma (which resists treatment) Poor visual prognosis[tsbvi.edu]

Etiology

  • 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]

Epidemiology

  • 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]
  • 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]
  • Relevant External Links for OPA1 Genetic Association Database (GAD) OPA1 Human Genome Epidemiology (HuGE) Navigator OPA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: OPA1 No data available for Genatlas for OPA1 Gene OPA1 increases the[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • A reevaluation of the potential clinical role of mitochondria could give a new light on some yet obscure aspects of human pathophysiology.[books.google.de]
  • "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]
  • Hereditary optic neuropathies and a proposed common pathophysiology through mitochondrial dysfunction.[eyewiki.aao.org]
  • OPA1-associated disorders: Phenotypes and pathophysiology. Int J Biochem Cell Biol 2009;41:1855-65. 2. Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease.[ijo.in]
  • Wolframin function The pathophysiology of Wolfram syndrome suggests that Wolframin is involved in the survival pathways of neurons and pancreatic beta cells.[diapedia.org]

Prevention

  • , Yehiel Friedlander , Luna Kaduri , Efrat Levy-Lahad , Rivka Yanetz , Lisa Deutsch , Hagit Hochner , Ora Paltiel , Ethnic ancestry and increased paternal age are risk factors for breast cancer before the age of 40 years, European Journal of Cancer Prevention[onlinelibrary.wiley.com]
  • 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]
  • The authors suggested that WFS1 prevents secretory cells from death caused by dysregulation of this signalling pathway [10].[diapedia.org]

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