The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge. [books.google.com]

Cortical opacities are also present. Both of these findings were present bilaterally (right). Images: Liang MC, Strominger MB Figure 2. Bilateral optic atrophy with temporal pallor. No pigmentary retinopathy was noted in either eye. [healio.com]

Autosomal dominant optic atrophy type 3 OPA3, autosomal dominant Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: H47.2 OMIM: 165300 UMLS: C1833809 MeSH: C537128 GARD: 10203 MedDRA: - The documents contained in this web site are presented [orpha.net]

• Anemia

  Manifestations of GCA 233 1332 Anterior Ischemic Optic Neuropathy 234 1333 Other Types of Ischemic Visual Loss 235 1335 Orbital Manifestations 236 1343 LargeVessel Vasculitis 237 135 Laboratory Investigations in GCA 238 1352 CReactive Protein 239 1355 Anemia [books.google.de]

  The presence of cataracts in addition to bilateral optic atrophy should lead to consideration of other less likely etiologies, such as thiamine-responsive megaloblastic anemia, Refsum disease and Friedreich’s ataxia. [healio.com]

  At the other end of the extreme, hemorrhaging, anemia, or extensive liver or central nervous system damage may occur. [tsbvi.edu]

  Bardet-Biedl syndrome 11615988 TRNT1Retinitis pigmentosa and erythrocytic microcytosis,616959 TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084 TRPM1Night blindness, congenital stationary (complete [qgenomics.com]

  Additional findings include glomerulopathy, hemolytic uremia syndrome, and megaloblastic anemia and other pancytopenias. The diagnosis is initially suspected on the basis of elevated levels of homocysteine and decreased levels of methionine. [aao.org]

• Fatigue

  Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. J Pediatr. 1999 Oct;135(4):494-9. PubMed PMID: 10518084. Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. [columbiaeye.org]

• Long Arm

  Peters' anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol. 1984 Jan;97(1):11-5. PubMed PMID: 6696011. Kivlin JD, Lovrien EW, Bishop DT, Maumenee IH. Linkage analysis in dominant optic atrophy. [columbiaeye.org]

• Visual Acuity Decreased

  acuity Decreased clarity of vision 0007663 Tremor Tremors 0001337 Showing of 34 | Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  Patient V.1, a female born in 1967, first had a decrease in visual acuity at the age of 12. At age 18, visual acuity was 4/10 in each eye. [jmg.bmj.com]

• Blurred Vision

  The nystagmus can be provoked by change in head position or angular rotation of the child around an earth-vertical axis while wearing Fresnel or high hyperopic lenses to blur vision. [aao.org]

• Ataxia

  Abbreviations or Slang with similar meaning ACHOO - Autosomal Dominant Compelling Helio-Ophthalmic Outburst ADCA I - Autosomal Dominant Cerebellar Ataxia Type I ADCA-I - Autosomal Dominant Cerebellar Ataxia Type I ADCA1 - Autosomal Dominant Cerebellar [acronymsandslang.com]

  Keywords: Recessive ataxia Friedreich ataxia Ataxia-telangiectasia Refsum disease Wilson disease Niemann-Pick disease type C Resumen Introducción Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo [elsevier.es]

  Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD® exclusive variant numbers (++) ACO2 100850 Infantile cerebellar-retinal degeneration AR 1 AFG3L2 604581 spinocerebellar ataxia 28; spastic ataxia 5 AD, AR 20 C12orf65 613541 Combined oxidative [centogene.com]

  OPA3 –related autosomal dominant optic atrophy and cataract with ataxia and areflexia. Eur. [frontiersin.org]

  Clinical examination at the age of 38 showed cerebellar ataxia, lower limb areflexia, pinprick and light-touch hypoesthesia, and pes cavus. Ophthalmological examination showed a visual acuity of 1/10 in both eyes. [karger.com]

• Nystagmus

  Metabolic causes of nystagmus. [aao.org]

  Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail. [books.google.com]

  Ophthalmological signs of this 38-year-old woman consisted of (1) bilateral optic atrophy and nystagmus since the first year of life, (2) progressive loss of vision, and (3) bilateral cerulean cataract at age 37. [karger.com]

  Coenzyme Q Deficiency 273 154 Diagnostics 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 [books.google.de]

• Cerebellar Ataxia

  Abbreviations or Slang with similar meaning ACHOO - Autosomal Dominant Compelling Helio-Ophthalmic Outburst ADCA I - Autosomal Dominant Cerebellar Ataxia Type I ADCA-I - Autosomal Dominant Cerebellar Ataxia Type I ADCA1 - Autosomal Dominant Cerebellar [acronymsandslang.com]

  Clinical examination at the age of 38 showed cerebellar ataxia, lower limb areflexia, pinprick and light-touch hypoesthesia, and pes cavus. Ophthalmological examination showed a visual acuity of 1/10 in both eyes. [karger.com]

  The term spinocerebellar ataxia is used to describe progressive ataxias following an autosomal dominant inheritance pattern, whereas recessive ataxias characterised mainly by cerebellar atrophy are referred to as autosomal recessive cerebellar ataxias [elsevier.es]

  /microphthalmia-esophageal atresia syndrome Anterior segment dysgenesis Anterior uveitis Aplasia of lacrimal and salivary glands Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Ataxia-oculomotor apraxia type 1 Atopic keratoconjunctivitis [se-atlas.de]

  In complicated cases of autosomal dominant optic atrophy, in addition to bilateral optic neuropathy, several other neurological signs of neurological involvement can be observed: peripheral neuropathy, deafness, cerebellar ataxia, spastic paraparesis, [en.wikipedia.org]

• Areflexia

  Clinical examination at the age of 38 showed cerebellar ataxia, lower limb areflexia, pinprick and light-touch hypoesthesia, and pes cavus. Ophthalmological examination showed a visual acuity of 1/10 in both eyes. [karger.com]

  Leber Optic Atrophy and Dystonia SPOAN - Spastic Paraplegia, Optic Atrophy, and Neuropathy ADOA - Autosomal Dominant Optic Atrophy CAMOS - Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities CAPOS - Cerebellar Ataxia, Areflexia [acronymsandslang.com]

  […] conjunctival dermolipoma Butterfly-shaped pigment dystrophy Cancer-associated retinopathy Canthal anomaly Cataract-glaucoma syndrome Cataract-microcornea syndrome Central areolar choroidal dystrophy Central cloudy dystrophy of François Cerebellar ataxia-areflexia-pes [se-atlas.de]

  OPA3 –related autosomal dominant optic atrophy and cataract with ataxia and areflexia. Eur. [frontiersin.org]

  […] described of late (25-39 years) and very late onset (40 years and older). 19–21 The typical phenotype is progressive spinal and cerebellar ataxia (loss of sensory ganglion cells and degeneration of the posterior columns and spinocerebellar tracts), with areflexia [elsevier.es]

• Extrapyramidal Symptoms

  symptoms and certain defects of Friedreich's disease. [snpedia.com]

  [On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. [disorders.eyes.arizona.edu]

Helps you make optimal use of the newest drug therapies, including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes. [books.google.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.de]

How many times should the treatment be applied? Follow-up results let us make a conclusion about how well you’re responding to the treatment and whether you can benefit from a second course. [restore-vision.com]

Treatment Treatment Options: No effective treatment is available for the optic atrophy. Cataract surgery may be necessary for visually significant lens opacities. [disorders.eyes.arizona.edu]

Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias. [checkrare.com]

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.de]

Identification of the specific mutation concerned is essential to establishing a prognosis and providing satisfactory treatment and proper genetic counselling. [elsevier.es]

Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993 Mar 15;115(3):360-7. PubMed PMID: 8442497. Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. [columbiaeye.org]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.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.de]

However, it is optic nerve pallor in excess of cupping, particularly of the temporal rim, that should prompt the physician to seek etiologies other than glaucoma. [reviewofophthalmology.com]

The presence of cataracts in addition to bilateral optic atrophy should lead to consideration of other less likely etiologies, such as thiamine-responsive megaloblastic anemia, Refsum disease and Friedreich’s ataxia. [healio.com]

1993 Leber's hereditary optic neuropathy: The etiological role of a mutation in the mitochondrial cytochrome b gene. [findanexpert.unimelb.edu.au]

Relevant External Links for OPA3 Genetic Association Database (GAD) OPA3 Human Genome Epidemiology (HuGE) Navigator OPA3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: OPA3 No data available for Genatlas for OPA3 Gene Type III 3-methylglutaconic [genecards.org]

Ophthalmic Epidemiology. 14. 2007 The optic nerve head in Myocilin glaucoma.. [findanexpert.unimelb.edu.au]

However, there is no molecular epidemiological study for DOA in Chinese populations even though there are large case series of such studies for Chinese patients with LHON [ 28 ]. [molvis.org]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [elsevier.es]

The Department of Ophthalmology of the University-Hospital of Montpellier has the authorization # 11018S from the French Ministry of Health to perform biomedical research in the field of physiology, pathophysiology, epidemiology, and genetics in ophthalmology [frontiersin.org]

This syndrome has a discrete pathophysiology and differs genetically and clinically from recessive Wolfram syndrome. Received October 25, 2016. Accepted April 21, 2017. © 2017 by the American Diabetes Association. [diabetes.diabetesjournals.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]

The possible consequences of AFG3L2 mutation might be related to the pathophysiology of DOA, a disease which is caused by OPA1 haplo-insufficiency or eventually by a dominant negative process ( Olichon et al., 2007 ). [frontiersin.org]

Preventing vision loss is rewarding. I screen patients to see if they have early signs of glaucoma or other diseases. Early detection helps prevent vision loss. My patients receive the best possible care. [wexnermedical.osu.edu]

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]

Other syndromes such as Cornelia de Lange may have gastrointestinal problems associated with them which may require special diets or medicines to prevent more serious conditions from developing. [tsbvi.edu]

Ophthalmic Epidemiology. 18. 2011 Telemedicine model to prevent blindness from familial glaucoma. [findanexpert.unimelb.edu.au]

Young invetigator award、 「Corneal endothelium via CD95 ligand prevents rejection of heterotopic corneal allografts by interfering with both induction (afferent) and expression (efferent) of alloimmunity. [www2.nms.ac.jp]