1. EMedicine - Chronic Progressive External Ophthalmoplegia : Article By Tracey A S An introduction to chronic progressive external ophthalmoplegia. Includes clinical features, work Category Health Conditions and Diseases Kearns Sayre Syndrome......chronic progressive external ophthalmoplegia chronic progressive external ophthalmoplegia(CPEO) is a disorder characterized by slowly progressive paralysis http://www.emedicine.com/oph/topic510.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Neurologic Disorders Chronic Progressive External Ophthalmoplegia Last Updated: February 2, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: abiotrophic ophthalmoplegia, CPEO with ragged red fibers, oculocraniosomatic neuromuscular disease, ocular myopathy, Olson disease, Kearns-Sayre-Daroff syndrome, Kearns-Sayre syndrome, progressive external ophthalmoplegia plus AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Tracey A Schmucker, MD , Staff Physician, Department of Ophthalmology, University of Arkansas for Medical Sciences Coauthor(s): Hampton Roy, Sr, MD , Clinical Associate Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences Editor(s): Edsel Ing, MD, FRCS(C) , Lecturer, Department of Ophthalmology, University of Toronto, Sunnybrook and Women's Health Sciences Center; Donald S Fong, MD, MPH

2. BioMed Central | Abstract | Chronic Progressive External Ophthalmoplegia Report chronic progressive external ophthalmoplegia Andrew G Lee MD and Paul W BrazisMD Department of Ophthalmology, 200 Hawkins Drive PFP, University of Iowa http://www.biomedcentral.com/1528-4042/2/413/abstract

Welcome guest user home journals A-Z journals by subject advanced search ... Issue 5 Viewing options Abstract Full text PDF Other links: E-mail to a friend Download references Post a comment Search PubMed For Lee AG Brazis PW Report Chronic Progressive External Ophthalmoplegia Andrew G Lee MD and Paul W Brazis MD Department of Ophthalmology, 200 Hawkins Drive PFP, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA Current Neurology and Neuroscience Reports Abstract Chronic progressive external ophthalmoplegia (CPEO) is a descriptive term for a heterogenous group of disorders characterized by chronic, progressive, bilateral, and usually symmetric ocular motility deficit and ptosis. Significant pain, proptosis, or pupil involvement are not features of CPEO and should prompt evaluation for alternative etiologies. Mitochondrial DNA mutations are increasingly being recognized as the etiology for CPEO syndromes. Clinicians should recognize the specific syndromes associated with CPEO, characterized by variable systemic, neurologic, or other findings. Treatment is limited, but newer therapies are being investigated. Terms and Conditions Privacy statement Information for advertisers Contact us

3. Chronic Progressive External Ophthalmoplegia chronic progressive external ophthalmoplegia G. Danta, RC. Hilton and PG. Pages 473 492 Part of the OUP Brain WWW service Click here to register with OUP. Last updated 14 May 97 http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_98/Issue_03/980473.sgm.

Volume 98: January - December 1975 Issue 3: September 1975 Abstract Chronic progressive external ophthalmoplegia G Danta RC Hilton and PG Lynch Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

4. Chronic Progressive External Ophthalmoplegia chronic progressive external ophthalmoplegia This response submitted by RW Enzenauer, MD on 3/12/02. Tony CPEO (chronic progressive external ophthalmoplegia) is a condition of limited eye movements, but it is I think an http://med-aapos.bu.edu/publicinfo/store5/ChronicProgressiveExternalOpht

Chronic Progressive External Ophthalmoplegia This response submitted by RW Enzenauer, MD on 3/12/02. Tony: CPEO (Chronic Progressive External Ophthalmoplegia) is a condition of limited eye movements, but it is I think an entirely different entity from Congenital fibrosis. CPEO was often felt to be an isolated myopatchy of the extraocualr muscles. That has been some suggestions that CPEO has associated with it dysfunction of the mitochondria so there is some specuilation that mitochondrial DNA (mtDNA) might have something to do with the pathogenesis of this disorder. The majority of the cases of CPEO are sporadic. So, I am not aware of a connection betweeen congenital fibrosis and CPEO. Robert W. Enzenauer, MD, MPH Pediatric ophthalmology chattanooga, tn Next Article Return to Main Article Article complete. Click HERE to return to the Public Information Menu.

5. Emory Genetics Lab, KEARNS-SAYRE SYNDROME (KSS), CHRONIC PROGRESSIVE EXTERNAL OP KEARNSSAYRE SYNDROME, chronic progressive external ophthalmoplegia These patients frequently present with ptosis, ophthalmoplegia and mitochondrial myopathy. http://www.emory.edu/WHSC/GENETICSLAB/dna/kearns.htm

KEARNS-SAYRE SYNDROME, CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA INDICATIONS These patients frequently present with ptosis, ophthalmoplegia and mitochondrial myopathy. Severe cases have onset before 20 years of age and also manifest retinitis pigmentosa and a least one of the following: cardiac conduction defects, cerebellar ataxia, or elevated CSF protein above 100 mg/dl. Approximately 83% of KSS and 47% of CPEO patients carry mitochondrial DNA rearrangements detectable by southern analysis. A great majority of these rearrangements are new mutations. Therefore, the patients are heteroplasmic for normal and rearranged mitochondrial DNA molecules. The remainder of cases result from a variety of point mutations. Since mutant mitochondrial DNA molecules may be undetectable in blood cells due to replicative segregation, analysis of muscle biopsy may be necessary if the blood sample is negative for rearrangements or mutations. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube.

6. Ultrastructural Analysis Of Extraocular Muscle In Chronic Ultrastructural Analysis of Extraocular Muscle in chronic progressive external ophthalmoplegiaAuthor Information Arturo Carta, MD; Tiziana D'Adda, BSc; Franco http://archopht.ama-assn.org/issues/v118n10/abs/ecp90053.html

7. CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO) A CASE REPORT The diagnosis of chronic progressive external ophthalmoplegia (CPEO) was established pathologically by detection of http://www.dog.org/1998/e-abstract98/521.html

96th DOG Annual Meeting, 1998 CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO) A CASE REPORT K. Meyer , Ch. Haß-Teller , Ch. Matzen , S. Günzel , R. Schober P. Wiedemann Mitochondrial myopathies are a group of disorders that can cause a variety of multisystem signs and symptoms, like hereditary oculopharyngeal dystrophy, cerebellar dysfunction, epilepsy or heart block. The most important ophthalmologic features of these disorders include ptosis, progressive external ophthalmoplegia and pigmentary retinal degeneration. Klinik und Poliklinik für Augenheilkunde der Universität Leipzig, Liebigstr. 10-14, D-04103 Leipzig Abteilung für Neuropatholoqie der Universität Leipzig, Liebigstr. 26, D-04103 Leipzig Back

8. EMedicine - Kearns-Sayre Syndrome : Article Excerpt By: Ewa Posner, MD Key Words, and Related Terms KSS, ophthalmoplegiaplus syndrome, oculocraniosomaticsyndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO http://www.emedicine.com/ped/byname/kearns-sayre-syndrome.htm

(advertisement) Excerpt from Kearns-Sayre Syndrome Synonyms, Key Words, and Related Terms: KSS, ophthalmoplegia-plus syndrome, oculocraniosomatic syndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, ophthalmoplegia, pigmentary degeneration of the retina, cardiomyopathy, progressive ophthalmoplegia Please click here to view the full topic text: Kearns-Sayre Syndrome Background: Kearns-Sayre syndrome (KSS) is characterized by a triad of features including (1) onset in persons younger than 20 years; (2) chronic, progressive, external ophthalmoplegia; and (3) pigmentary degeneration of the retina. In addition, KSS may include cardiac conduction defects, cerebellar ataxia, and raised cerebrospinal fluid (CSF) protein levels (>100 mg/dL). Additional features associated with KSS may include myopathy, dystonia, endocrine abnormalities (eg, diabetes, growth retardation/short stature, hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis. Thus, KSS may affect many organ systems. Pathophysiology: KSS occurs secondary to deletions in mitochondrial DNA (mtDNA) that cause a particular phenotype. The gene in which deletions occur is identified as Online Mendelian Inheritance in Man number 530000. An understanding of some aspects of mitochondrial genetics is important to understanding KSS.

9. A To Z Encyclopedia Topic: Chronic Progressive External Ophthalmoplegia chronic progressive external ophthalmoplegia. Unfortunately, at this time,we are not able to provide information about this condition or procedure. http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Chronic Progressive

10. EMedicine - Chronic Progressive External Ophthalmoplegia : Article Excerpt By: T Excerpt from chronic progressive external ophthalmoplegia. Synonyms, Key Words, and Related Terms abiotrophic http://www.emedicine.com/oph/byname/chronic-progressive-external-ophthalmoplegia

(advertisement) Excerpt from Chronic Progressive External Ophthalmoplegia Synonyms, Key Words, and Related Terms: abiotrophic ophthalmoplegia, CPEO with ragged red fibers, oculocraniosomatic neuromuscular disease, ocular myopathy, Olson disease, Kearns-Sayre-Daroff syndrome, Kearns-Sayre syndrome, progressive external ophthalmoplegia plus Please click here to view the full topic text: Chronic Progressive External Ophthalmoplegia Background: Chronic progressive external ophthalmoplegia (CPEO) is a disorder characterized by slowly progressive paralysis of the extraocular muscles. Patients usually experience bilateral, symmetrical, progressive ptosis, followed by ophthalmoparesis months to years later. Ciliary and iris muscles are not involved. CPEO is the most frequent manifestation of mitochondrial myopathies. CPEO in association with mutations in mitochondrial DNA (mtDNA) may occur in the absence of any other clinical sign, but usually it is associated with skeletal muscle weakness. Kearns-Sayre syndrome (KSS) is a related mitochondrial myopathy that demonstrates the following: CPEO, onset before age 20, and pigmentary retinopathy. KSS also has at least one of the following: cardiac conduction defects, cerebrospinal fluid (CSF), protein of greater than 100 mg/dL, and a cerebellar syndrome. Other abnormalities in KSS can include mental retardation, Babinski sign, hearing loss, seizures, short stature, delayed puberty, and various endocrine disorders. CPEO also can be a sign in the following disorders: oculopharyngeal dystrophy, myasthenia gravis, and Graves disease.

11. Children's Hospital Boston: A To Z Encyclopedia Topic Index Chronic Lung Disease (Bronchopulmonary Dysplasia). Chronic Myelogenous Leukemia.chronic progressive external ophthalmoplegia. Circumcision. Cleft Hands. http://web1.tch.harvard.edu/cfapps/A2ZtopicIndex.cfm

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12. Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, Chronic Progressive External. Back to previous level KearnsSyndrome Search PUBMED for Kearns Syndrome All Review Therapy Diagnosis. http://www.ohsu.edu/cliniweb/C11/C11.590.472.750.html

Ophthalmoplegia, Chronic Progressive External Back to previous level Kearns Syndrome Search PUBMED for Kearns Syndrome: All Review Therapy Diagnosis

13. Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, Chronic Progressive External Back to previous level Kearns Syndrome Search PUBMED for Kearns Syndrome All Review Therapy Diagnosis http://medir.ohsu.edu/cliniweb/C11/C11.590.472.750.html

Ophthalmoplegia, Chronic Progressive External Back to previous level Kearns Syndrome Search PUBMED for Kearns Syndrome: All Review Therapy Diagnosis

14. Health Library - Kearns Sayre Syndrome (KSS) disorder characterized by three primary findings progressive paralysis of certaineye muscles (chronic progressive external ophthalmoplegia CPEO); abnormal http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

15. Volume 51 January - December 1928 chronic progressive external ophthalmoplegia. HM . Langdon and WB . Cadwalader.Pages 321 333. Part of the OUP Brain WWW service. General Information. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_51/Issue_03/510321.sgm.

Volume 51: January - December 1928 Issue 3: October 1928 Abstract Chronic progressive external ophthalmoplegia HM Langdon and WB Cadwalader Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 13 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

16. References CPEO, chronic progressive external ophthalmoplegia; KSS, KearnsSayre syndrome;LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy http://www.medscape.com/content/2001/00/41/08/410870/410870_tab.html

Tables for: Neuro-Ophthalmology of Mitochondrial Diseases Table 1. Most Common Neuro-Ophthalmic Abnormalities Seen in Mitochondrial Disorders Bilateral optic neuropathy Ophthalmoplegia with ptosis Pigmentary retinopathy Retrochiasmal visual loss Table 2. Neuro-Ophthalmic Manifestations of Mitochondrial Disorders Disease Ophthalmic Manifestations CPEO/KSS Ophthalmoplegia* Ptosis* Pigmentary retinopathy* LHON Early Disc microangiopathy* Pseudo disc edema* Vascular tortuosity* Late Optic atrophy* MELAS Homonymous hemianopia* Cortical blindness* Pigmentary retinopathy* Ophthalmoplegia Optic atrophy NARP/Leigh's syndrome Pigmentary retinopathy* Optic atrophy MERRF Optic atrophy MIDD Macular dystrophy* MNGIE Ophthalmoplegia* Ptosis* Pigmentary retinopathy *Commonly found. CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa; MERRF, myoclonic epilepsy and ragged-red fibers; MIDD, maternally inherited diabetes mellitus and deafness; MINGIE, mitochondrial neurogastrointestinal encephalomyopathy. Table 3. Nonneuro-Ophthalmic Manifestations of Mitochondrial Disorders

17. Member Sign In diseases and state the criteria for diagnosis of various subtypes, including Leber'sdisease, chronic progressive external ophthalmoplegia (CPEO), and MELAS. http://www.medscape.com/viewarticle/410870

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18. Muscular Dystrophy Campaign Ocular Myopathies it appears that most of these patients have either oculopharyngeal muscular dystrophy(OPMD) or mitochondrial chronic progressive external ophthalmoplegia (CPEO http://www.muscular-dystrophy.org/information/KeyFacts/oc1.html

@import "../../css/cssstyle.css"; Receive copies of our quarterly magazine Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell Ocular Myopathies June 2000 Written by Dr D.Hilton-Jones, Consultant Neurologist, Oxford for the Muscular Dystrophy Campaign It has been recognised for many years that some patients with muscle disease have particular problems with the muscles around the eyes, although other parts of the body can also be involved. Whilst research is continuing, it appears that most of these patients have either oculopharyngeal muscular dystrophy (OPMD) or mitochondrial chronic progressive external ophthalmoplegia (CPEO). The main features of these disorders are discussed below. Some of the symptoms and signs are common to both disorders. Medical terms frequently used include: ptosis, external ophthalmoplegia, diplopia and dysphagia. Ptosis - this describes drooping of the eyelids due to weakness of the muscle that normally lifts up the eyelid. External ophthalmoplegia - this means weakness and restriction of muscle movement around the eye (external to the eye). It shows as slowness and incomplete range of movement of the eyes, and includes the eyelid muscle weakness that causes ptosis. These problems typically progress very slowly, hence the term 'chronic progressive external ophthalmoplegia'.

19. I Abstract /i Increased Metabolic Muscle Fatigue Is Caused By Metabolic muscle fatigue was assessed in a series of 21 patients with an MEM, including13 patients with chronic progressive external ophthalmoplegia and 8 http://www.immunesupport.com/library/showarticle.cfm/id/4257

: Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations Immune Support .com Site! Over 3 million Annual Visitors Items Health Watch Newsletter The Latest News Articles The Latest Abstracts ... The Latest Drug News Search Our Site Fibromyalgia Overview Treatment Fibromyalgia Chat Chronic Fatigue Syndrome Overview Treatments Chronic Fatigue Syndrome Chat ... Support Groups Health Resources Aids Chat Alzheimer's Arthritis Chronic Fatigue ... Weight Loss Free Catalog Advertisement Abstract : Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations ImmuneSupport.com Arch Neurol 2003 Jan;60(1):50-8 Schulte-Mattler WJ, Muller T, Deschauer M, Gellerich FN, Iaizzo PA, Zierz S. Klinik und Poliklinik fur Neurologie, Universitat Regensburg, Im Bezirksklinikum, Universitatsstrasse 84, 93053 Regensburg, Germany. wilhelm.schulte-mattler@klinik.uni-regensburg.de CONTEXT: Excessive muscle fatigue occurs in patients with a mitochondrial encephalomyopathy (MEM), but it is also a frequent problem in patients with other neuromuscular disorders (ONMD). OBJECTIVE: To determine whether, and to what extent, metabolic muscle fatigue specifically occurs in patients with an MEM.

20. Ophthalmology Examination On Videos chronic progressive external ophthalmoplegia File size 2.7MB Two patients withchronic progressive external ophthalmoplegia showing bilateral ptosis and http://www.mrcophth.com/videosonclinicalexamination/1a.html

Videos on Clinical Examination: I In this section, common examination techniques are shown as short films using the window media player. The film clips are soundless. Please use broadband connection for quick downloading. Any comments please e-mail to chuaoxford@hotmail.com Ocular motility examinations and abnormalities Nystagmus examination File size: 1.5MB This video shows the basic technique for examining a patient with nystagmus. The patient has bilateral pendular nystagmus due to congenital macular scars possibly caused by toxoplasmosis. Ocular movement (basic examination) File size: 2.8MB Unless told otherwise begin with a cover and alternate cover test for near and distant fixation. Examine the eye in the nine cardinal positions of gaze. Do not forget to perform horizontal and vertical saccades. Special thanks to Miss D. Louis FRACO for the demonstration. Prism cover test (right esotropia) File size: 3.4MB This is a common request in part II OSE. Before carrying out the test, perform the cover/uncover test and alternate test to ascertain if the patient has eso- or exo- tropia or phoria. The prism cover test is carried out with the apex pointing in the direction of the tropia or phoria. Performed the prism cover tests for near (using a fixation target) and distant. The end point of the test occurs when there is no eye movement on alternate cover test. This patient has a right esotropia. Abnormal cover/uncover tests File size: 3.4MB

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