Edit concept Question Editor Create issue ticket

Autosomal Dominant Optic Atrophy and Cataract

OPA3


Presentation

  • The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge.[books.google.com]
  • JP Medical Ltd, ٣١‏/٠٣‏/٢٠١٢ - 548 من الصفحات The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms.[books.google.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]
  • This new edition presents unparalleled guidance on nearly every ophthalmic condition and procedure including the latest advances in the field, such as optical coherence tomography (OCT), the ocular surface, new pharmacologic therapies, updated oculoplastic[books.google.com]
Burning Pain
  • Additional symptoms consisted of intractable constipation alternating with severe diarrhea since childhood, together with gait unsteadiness, paresthesias in the four extremities, cramps, and burning pain in the lower limbs since the age of 35.[karger.com]
Torticollis
  • Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis.[books.google.com]
Extension of Elbows Limited
  • Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Limited wrist movement Limited movement of the wrist 0006248 Pes cavus High-arched foot 0001761 Positive[rarediseases.info.nih.gov]
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]
Dyslexia
  • […] deformity [ more ] 0001172 Absent Achilles reflex Absent ankle reflexes 0003438 Anterior cortical cataract 0007795 Anterior subcapsular cataract 0010923 Blindness 0000618 Cerulean cataract 0007976 Deviation of the 2nd finger Displaced index finger 0009468 Dyslexia[rarediseases.info.nih.gov]
Tremor
  • Neurological abnormality [ more ] 0000707 Autosomal dominant inheritance 0000006 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Reduced visual acuity Decreased clarity of vision 0007663 Tremor Tremors 0001337 Showing of 34 Last[rarediseases.info.nih.gov]
  • Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).[orpha.net]
  • Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).[orpha.net]
  • Systemic Features: Neurologic signs such as tremor, extrapyramidal rigidity in the upper extremities, and ataxia are seldom present until after the age of 50 years. However not all patients have neurologic disease.[disorders.eyes.arizona.edu]
Cognitive Deficit
  • Disease description An autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit.[uniprot.org]
  • MGA3 is an autosomal recessive neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction, and cognitive deficit.[mybiosource.com]
  • Recessive mutations in OPA3 are responsible for type III 3-methylglutaconic aciduria (the so-called Costeff syndrome) consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal signs, and cognitive deficit [ 4 ].[karger.com]
  • Pathogenic truncating variants are responsible for this neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit.[ncbi.nlm.nih.gov]
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]
  • […] 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]
Paresthesia
  • 0000648 30%-79% of people have these symptoms Ataxia 0001251 Central scotoma Central blind spot 0000603 Cerebellar atrophy Degeneration of cerebellum 0001272 Muscle cramps 0003394 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Pain 0012531 Paresthesia[rarediseases.info.nih.gov]
  • Additional symptoms consisted of intractable constipation alternating with severe diarrhea since childhood, together with gait unsteadiness, paresthesias in the four extremities, cramps, and burning pain in the lower limbs since the age of 35.[karger.com]
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]

Treatment

  • 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]
  • 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]
  • State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery.[books.google.com]

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.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]

Etiology

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

Epidemiology

  • 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]
  • Clinical and epidemiological aspects.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]

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!