Extractions: Health Funding News Laboratories ... Research Funding The research projects supported by the National Eye Institute (NEI) address the leading causes of blindness and impaired vision in the United States. The NEI supports a broad range of basic and clinical research, clinical trials and other epidemiologic studies, and research training and career development in the sciences related to vision. A detailed description of NEI program priorities and funding policies is contained in the report of the National Advisory Eye Council, Vision Research - A National Plan: 1999-2003 . The research objectives given below are representative only, and are not intended to be an all-inclusive compilation of areas of interest to the NEI. Investigators are strongly encouraged to contact one of the NEI extramural program directors to discuss their research, training, or career development plans. All Division of Extramural Research staff members may be reached at 301-451-2020. Explore the pathophysiological heterogeneity of age-related macular degeneration (AMD) to hasten development of the tools needed for improved diagnosis, prevention and therapy.
Human Mitochondrial Genome Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia AD Alzeimer'sDisease CPEO chronic progressive external ophthalmoplegia ADPD Alzeimer's http://www.mad-cow.org/00/annotation_frames/tools/genbrow/mitochon_genome.html
Extractions: Draft tracks last updated 26 August 2001: The mammalian mitochondrial genome is a very natural extension of the nuclear genome that might simply be included as an "extra chromosome" to the existing human and mouse browsers. It is also a good choice for development of custom tracks, a proteome/mutational browser, and stand-alone web browser mirror issues because it factors out large file, assembly, draft, and recomputation issues, isolating core mirror/mysql database procedures. While the human and mouse mitochondrial genomes are finished, many dozen mammal and early eukaryote projects are underway. The mitochondrial genome was derived billions of years ago from an internalized alpha-proteobacteria, so the project also serves as a model for implementing the estimated 460 bacterial and archael genomes projects underway. There already exist a number of superb mitochondrial sites furnishing well-maintained data of all types. Thus this project does not have to search the research literature for data but rather, since the data is not always in a format suitable for a custom track, develop automatic means of stripping out the content of these sites (and by implication, unattended maintainence of the mitochondrial genome browser).
Ophthalmoplegia ophthalmoplegia, chronic progressive external 1 more specific term/s,0 more link/s Search PUBMED for ophthalmoplegia, chronic http://www.ohsu.edu/cliniweb/C11/C11.590.472.html
Extractions: Leu(UUR) a case of chronic progressive external ophthalmoplesia with a heteroplasmic A-to-G transition at nt.3243 in the tRNA Leu(UUR) Yoshiko Aoki, Yasuhiro Nishida, Toyotaka Murata, Makiko Kimura, Masahiko Terada We report on a 35 year-old female with chronic progressive external ophthalmoplegia. She had bilateral blepharoptosis, total ophthalmoplegia and muscle weakness of the bilateral proximal groups of the upper extremities and facial muscles. She did not exhibit either endocrinological disorder or hearing loss nor was there any family history. Pathological findings of the limb skeletal muscle showed ragged red fibers and cytochrome c oxidase-negative fibers. Mitochondrial DNA analysis revealed a mutation at the heteroplasmic A-to-G transition at nt.3243 in the RNA (LeuUUR) . During clinical examinations, there were no signs of encephalopathy or stroke-like episodes normally seen in cases of MELAS. keyword : CPEO, mtDNA3243 tRNA (LeuUUR) mutation, MELAS
Extractions: CT Moraes, S DiMauro, M Zeviani, A Lombes, S Shanske, AF Miranda, H Nakase, E Bonilla, LC Werneck, S Servidei, and et al. Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Moraes, C. T. Medline Citation Abstract This article has been cited by other articles: Schapira, A. H. V. (1998). Inborn and Induced Defects of Mitochondria. Arch Neurol [Full Text] Carta, A., D'Adda, T., Carrara, F., Zeviani, M. (2000). Ultrastructural Analysis of Extraocular Muscle in Chronic Progressive External Ophthalmoplegia. Arch Ophthalmol [Abstract] [Full Text] Rogounovitch, T. I., Saenko, V. A., Shimizu-Yoshida, Y., Abrosimov, A. Yu., Lushnikov, E. F., Roumiantsev, P. O., Ohtsuru, A., Namba, H., Tsyb, A. F., Yamashita, S. (2002). Large Deletions in Mitochondrial DNA in Radiation-associated Human Thyroid Tumors. Cancer Res [Abstract] [Full Text] Diaz, F., Bayona-Bafaluy, M. P., Rana, M., Mora, M., Hao, H., Moraes, C. T. (2002). Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control.
Mitochondrial Myopathies The Official Parent's Sourcebook on MITOCHONDRIAL MYOPATHIES (chronic progressiveexternal ophthalmoplegia and Myopathy; chronic progressive external http://www.icongrouponline.com/health/Mitochondrial_Myopathies.html
Diagnosis Case 11 autosomal dominant progressive external ophthalmoplegia syndrome in weakness and externalopthalmoplegia. before 20, chronic progressive external opthalmoplegia http://sprojects.mmi.mcgill.ca/neuropath/case11/11diag.htm
Extractions: The differential diagnosis for a young patient with asymmetrical palpebral ptosis and diplopia, with no limb or trunk weakness includes mainly myasthenia gravis (or a congenital myasthenic syndrome), or a mitochondrial disorder. The electrodiagnositic studies suggest a myopathy rather than a neuromuscular transmission disorder. The diagnosis of myasthenia gravis is less likely in this case in view of the negative acetylcholine receptor antibodies, and negative tensilon test. The muscle biopsy was, therefore, done to find evidence for a myopathy. Microscopic discussion: This biopsy showed a florid mitochondrial myopathy as evidenced by the many "ragged" red fibers. It was consistent with the clinical phenotype of a progressive external ophthalmoplegia syndrome which is often caused by mitochondrial dysfunction. The vast majority of these cases show a common large deletion of the mitochondrial DNA. In this patient, the analysis for mitochondrial deletions was negative. Rarely, point mutations in the mitochondrial genome (such as in the isoleucine t-RNA gene) have been associated with this phenotype (Taylor RW et al, 1998, Biochem Biophys Res Commun 243:47-51). There exists an autosomal dominant progressive external ophthalmoplegia syndrome in which mitochondrial DNA deletions co-segregate with an autosomally derived factor which is thought to predispose to mitochondrial DNA deletions (Moslemi AR, et al., 1996, Ann Neurol 40:707-713).
Diagnosis Case 12 corresponds to the socalled progressive external ophthalmoplegia plus pattern. withonset before 20, chronic progressive external opthalmoplegia, ptosis http://sprojects.mmi.mcgill.ca/neuropath/case12/12diag.htm
Extractions: The differential diagnosis of this patient's weakness, ptosis, and progressive opthalmoplegia includes two main possibilities: myasthenia gravis (or other neuromuscular junction disorder) and a mitochondrial disorder. The fatigability on examination and the positive tensilon test argue in favor of the diagnosis of myasthenia gravis. However, this diagnosis was not supported by the negative acetylcholine receptor antibodies and the electrodiagnostic studies, which have sensitivities of 85% and over 90% respectively in myasthenia gravis. Mitochondrial disorders can also show progressive external opthalmoplegia and weakness, but are more rare. The muscle biopsy was done to verify the possibility of a mitochondrial myopathy and, in fact, confirmed it. Microscopy Discussion: The biopsy shows a florid mitochondrial myopathy. The clinical phenotype corresponds to the so-called progressive external ophthalmoplegia plus pattern. In the vast majority of these cases, a common deletion in the mitochondrial DNA can be found. In this patient however, mitochondrial DNA analysis failed to show such a defect or for that matter any of the common mutations known to occur in mitochondrial diseases. This raises the possibility of a defect in one of the nuclear-encoded subunits of cytochrome oxidase being responsible for this disease. Alternatively, this could represent a novel mitochondrial DNA mutation. The patient's family history was not helpful in that regard.
Extractions: W orld of Medicine - Ophthalmology Ophthalmology - Home Page Anatomy Physiology Diseases Diagnostic Tests Surgical Procedures Medications Journals ... Index (A-Z) Encyclopaedia of Ophthalmology - Greatest Links' Collection Diseases and Conditions Ocular Motility Disorders OCULAR MOTILITY DISORDERS Ocular Motility Disorders Duane Retraction Syndrome Miller Fisher Syndrome Pathologic Nystagmus ... Tolosa Hunt Syndrome OCULAR MOTILITY DISORDERS MeSH description Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the brain stem. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the cerebral cortex; basal ganglia; cerebellum; and brain stem. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., opsoclonus-myoclonus syndrome). (Adams et al., Principles of Neurology, 6th ed, p240).
Glossary progressive external ophthalmoplegia, A specific type of slowly worsening weaknessof the retinitis pigmentosa, A chronic progressive disease that has its onset http://www.athenadiagnostics.com/site/content/diagnostic_ed/glossary.asp?page=5
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Case Vignettes In Neurology 18 yearold female presents with progressive external opthalmoplegia of 12 years,progressive proximal muscle This is a chronic, slowly progressive course http://medocs.ucdavis.edu/neu/420/cases/cases99/CASE12.HTM
Extractions: This 18-year old female was evaluated for ophthalmoplegia and progressive muscle weakness. At the age of 6 years she was noted to have a squint and was given glasses. At seven she complained of double vision that gradually resolved. She did reasonably well until her early teens when she found herself unable to compete with other children at play. Approximately one year prior double vision recurred. For the past 6 months she complained of progressive generalized weakness and has difficulty rising from a seated to standing position. Summarize the Case in 1-2 sentences. 18 year-old female presents with progressive external opthalmoplegia of 12 years, progressive proximal muscle weakness for the last six months, pigmentary degeneration of the retina, and an incomplete heart block apparent on examination. In addition, ataxia, short stature, and ptosis were noted, although fatiguability, mental status changes, and family history were all absent. good, a bit on the long side
Baylor Neurology Case Of The Month is characterized by total external ophthalmoplegia, ataxia, and In this patient, theprogressive extremity weakness disease involves chronic lymph infiltration http://www.bcm.tmc.edu/neurol/challeng/pat15/summary.html
Extractions: CIDP involving Ocular Cranial Nerves The key issue was whether or not the patient's diplopia was related in etiology to her progressive weakness. Conditions which can cause both extremity weakness and ophthalmoparesis include: The EMG revealed a polyneuropathy, not myopathy or neuromuscular junction deficit. The absence of a decremental response during repetitive nerve stimulation and the negative Tensilon test also did not support this diagnosis. Moreover, this would be a late age for the initial presentation of MG. Diabetes: Although diabetes can cause almost any type of neuropathy, the most common pattern is a distal, symmetrical sensorimotor polyneuropathy that is primarily axonal in nature. Cranial nerve infarcts may lead to eye motility problems in diabetics, but this usually involves an acute, painful onset of ophthalmoparesis, and would be unlikely to involve four separate cranial nerves. In this patient, both the glucose tolerance test and the glycosylated hemoglobin level were normal, effectively ruling out diabetes. The Miller Fisher variant accounts for about 5 percent of GBS cases and is characterized by total external ophthalmoplegia, ataxia, and areflexia. Elevated anti-GQ1b ganglioside antibodies are consistently found. In this patient, the progressive extremity weakness for several months prior to the onset of diplopia is not consistent with GBS.
Arch Ophthalmol -- Page Not Found the article. Ultrastructural Analysis of Extraocular Muscle in ChronicProgressive external ophthalmoplegia (Arch Ophthalmol. 2000 http://archopht.ama-assn.org/issues/v118n10/related/ecp90053.html
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Extractions: Results: The onset of ocular symptoms with divergent strabism and ptosis could be dated back to the age of 7, 27, 38 and 44 years starting on one eye and progressing slowly over years to both eyes. Almost complete restriction of ocular motility (freezing) was reached after 10, 21, 29 and 31 years after the first symptoms. In the Kearns-Sayre-Syndrome patient general decrease in cardio-respiratory fitness and occasional collapses were noted. In three patients ptosis and strabism surgery led to the relief of the ocular symptoms. Conclusions: In CPEO respectively Kearns-Sayre-Syndrome the onset of the disease is variable and often at an older age. The final correct diagnosis is often delayed due to the mild beginning of the symptoms and the slow progression of the paralyses . In suspicious cases, early EMG and muscle biopsy examination may facilitate the diagnosis. Because of the progressive character of the disease, corrective muscle surgery should be considered with caution.
Poster96_59.html Surgical Management of Strabismus Associated with chronic progressive ExternalOphthalmoplegia. David K. Wallace, MD* and Derek T. Sprunger, MD. http://med-aapos.bu.edu/pappostp5/poster96_59.html
Extractions: Methods: Five patients with CPEO and strabismus requiring extraocular muscle surgery were reviewed, with attention to symptoms (including diplopia), preoperative and postoperative ocular motility, types of surgeries, effect of other treatment modalities (e.g. prism therapy, oculinum injections), and associated ocular and/or systemic conditions. Results: Three patients complained of diplopia prior to surgery. Two patients presented with esotropia, one with exotropia, and two with hypertropia. Four of five patients required only one surgery for their strabismus, while one patient required multiple surgeries to achieve alignment. No surgical complications were encountered. Two patients had Kearns-Sayre syndrome and one patient had oculopharyngeal dystrophy. Conclusions: CPEO may have clinical characteristics similar to myasthenia gravis and/or thyroid ophthalmopathy. Patients with CPEO and strabismus may benefit from extraocular muscle surgery to improve alignment and relieve diplopia. In addition, prism therapy and/or oculinum injections may be useful adjunct to surgery.
Muscular Dystrophy Campaign Mitochondrial Myopathies Other names for these diseases include KearnsSayre Syndrome (KSS), chronic ProgressiveExternal ophthalmoplegia (CPEO), Mitochondrial Encephalopathy, Lactic http://www.muscular-dystrophy.org/information/KeyFacts/mitomyop.html
DJO Grand Rounds - Ryan Acquired myogenic ptosis includes myotonic dystrophy, chronic progressiveexternal ophthalmoplegia, and oculopharyngeal dystrophy. http://www.djo.harvard.edu/meei/GR/Ryan020497/Ryan020497DiffDx.html
Extractions: Blepharoptosis can be classified as being congenital or aquired, and further subclassified into myogenic, aponeurotic, neurogenic, neuromuscular junction, and mechanical etiologies. Levator dystrophy is the most common cause of congenital ptosis and aponeurotic defects are commonly implicated in aquired ptosis. Neurogenic etiologies include cranial nerve III palsy, Horner's syndrome, and aberrent regeneration. Myasthenia gravis is due to an abnormality at the neuromuscular junction, and is characterized by diurnal variation and variable symptoms. Mechanical ptosis may be secondary to eyelid lesions and cicatricial conjunctivitis. Lastly, one must consider pseudoptosis which is generally caused from orbital volume deficits such as with anophthalmia and phthisis bulbi, as well as with contralateral lid retraction. Considering the history and examination findings, the differential was narrowed to myogenic ptosis and myasthenia gravis. Acquired myogenic ptosis includes myotonic dystrophy, chronic progressive external ophthalmoplegia, and oculopharyngeal dystrophy. Myotonic dystrophy is an autosomal dominant muscular dystropy with onset in the second decade of life, characterized by delayed relaxation of skeletal muscles after contraction. Symptoms include blepharospasm, which is followed by muscle atrophy, ptosis and weakness of orbicularis oculi. There are slow saccades and ophthalmoplegia often develops. The pupils are often miotic and sluggish to light and near. Characteristic Christmas tree cataracts (fine anterior and posterior subcapsular colored crystals) are found in virtually 100% of patients. There may be associated cardiac disease, dysphagia, constipation, incontinence, mental retardation, hyperostosis, scoliosis, testicular atrophy, and baldness.