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Hereditary Nystagmus in Early Childhood
J Med Genet: first published as 10.1136/jmg.7.3.253 on 1 September 1970. Downloaded from Journal of Medical Genetics (1970). 7, 253. Hereditary Nystagmus in Early Childhood BRIAN HARCOURT* Nystagmus is defined as a rhythmic involuntary clinical characteristics of various types of hereditary movement of the eyes, and as an acquired pheno- nystagmus and the techniques which are available menon arising in later childhood or in adult life is to differentiate between 'idiopathic' nystagmus and usually a symptom of serious neurological or laby- nystagmus as a symptom of an occult disorder of the rinthine disease; in such cases the movements of the visual apparatus in early childhood, some descrip- eyes commonly produce subjective symptoms of tion of the modes of inheritance and of the long- objects moving in the visual panorama (oscillopsia). term visual prognosis are given in the various Nystagmus may also be 'congenital', or, more categories of infantile nystagmus which can be so accurately, may first be observed within a few weeks defined. of birth when the infant begins to attempt to fix and to follow visually stimulating targets by means of Character of Nystagmus conjugate movements of the eyes. In such cases, Though it is not usually possible to arrive at the nystagmus may persist throughout life, but even an exact diagnosis of the cause of nystagmus by ob- at a later stage there is always a complete absence of servation of the eye movements alone, a great deal of the symptom of oscillopsia. Nystagmus which useful information can be obtained by such a study. -
Treacher Collins Prize Essay the Significance of Nystagmus
Eye (1989) 3, 816--832 Treacher Collins Prize Essay The Significance of Nystagmus NICHOLAS EVANS Norwich Introduction combined. The range of forms it takes, and Ophthalmology found the term v!to"[<xy!too, the circumstances in which it occurs, must be like many others, in classical Greece, where it compared and contrasted in order to under described the head-nodding of the wined and stand the relationships between nystagmus of somnolent. It first acquired a neuro-ophthal different aetiologies. An approach which is mological sense in 1822, when it was used by synthetic as well as analytic identifies those Goodl to describe 'habitual squinting'. Since features which are common to different types then its meaning has been refined, and much and those that are distinctive, and helps has been learned about the circumstances in describe the relationship between eye move which the eye oscillates, the components of ment and vision in nystagmus. nystagmus, and its neurophysiological, Nystagmus is not properly a disorder of eye neuroanatomic and neuropathological corre movement, but one of steady fixation, in lates. It occurs physiologically and pathologi which the relationship between eye and field cally, alone or in conjunction with visual or is unstable. The essential significance of all central nervous system pathology. It takes a types of nystagmus is the disturbance in this variety of different forms, the eyes moving relationship between the sensory and motor about one or more axis, and may be conjugate ends of the visual-oculomotor axis. Optimal or dysjugate. It can be modified to a variable visual performance requires stability of the degree by external (visual, gravitational and image on the retina, and vision is inevitably rotational) and internal (level of awareness affected by nystagmus. -
Macular Dystrophies Mimicking Age-Related Macular Degeneration
Progress in Retinal and Eye Research 39 (2014) 23e57 Contents lists available at ScienceDirect Progress in Retinal and Eye Research journal homepage: www.elsevier.com/locate/prer Macular dystrophies mimicking age-related macular degeneration Nicole T.M. Saksens a,1,2,7, Monika Fleckenstein b,1,3,7, Steffen Schmitz-Valckenberg b,4,7, Frank G. Holz b,3,7, Anneke I. den Hollander a,5,7, Jan E.E. Keunen a,5,7, Camiel J.F. Boon a,c,d,5,6,7, Carel B. Hoyng a,*,7 a Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands b Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany c Oxford Eye Hospital and Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, West Wing, Headley Way, Oxford OX3 9DU, United Kingdom d Department of Ophthalmology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands article info abstract Article history: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly Available online 28 November 2013 population in the Western world. AMD is a clinically heterogeneous disease presenting with drusen, pigmentary changes, geographic atrophy and/or choroidal neovascularization. Due to its heterogeneous Keywords: presentation, it can be challenging to distinguish AMD from several macular diseases that can mimic the Age-related macular degeneration features of AMD. This clinical overlap may potentially lead to misdiagnosis. In this review, we discuss the AMD characteristics of AMD and the macular dystrophies that can mimic AMD. The appropriate use of clinical Macular dystrophy and genetic analysis can aid the clinician to establish the correct diagnosis, and to provide the patient Differential diagnosis Retina with the appropriate prognostic information. -
Neuroophthalmology
Neuroophthalmology MAREK MICHALEC, MD PHD Clinic of Ophthalmology Faculty Hospital Brno and Masaryk University Version 12/2019 Content • Visual pathway affection • Diseases and affections of optic nerve • Optic chiasm pathology • Pathology of retrochiasmic part • Eye movement disorders • Binocular diplopia • Pupillary reaction abnormalities • Anisocoria • Combined disorders Examination - part I • Medical history • subjective (visual loss, diplopia) • When it started/ how long lasts it? • Does it change in time/ during the day? • Any progression? • What about the fellow eye? • Other signs? • Personal medical history? • Pharmacological history? • objective (pupillary dysfunction, eye movement disorders, ptosis of upper eyelid, red eye) Examination - part II • Visual acuity • Without and with correction • Monocular vision / binocular vision • Basic ophthalmological examination • Anterior segment (by slit lamp) • Posterior segment - arteficial mydriasis is essential (indirect ophthalmoscopy) • Visual field examination (static / kinetic perimetry) Examination - part III • Basic examination (GP) • Neurological examination • Intracranial conditions (including MRI) • neurological signs • Endocrinology • Thyroid associated orbitopathy / ophthalmopathy • Pituitary dysfunction Examination - part IV • Imaging techniques • Ultrasonography (eye bulb, orbit) • X-ray of skull (orbit, paranasal cavities) • Computerised Tomography of head (brain, skull bones, orbital bones) • MRI of head (brain, orbital structures) Optic nerve disorders Clinical signs • -
An Update on Progress and the Changing Epidemiology of Causes of Childhood Blindness Worldwide
Major Articles An update on progress and the changing epidemiology of causes of childhood blindness worldwide Lingkun Kong, MD, PhD,a Melinda Fry, MPH,b Mohannad Al-Samarraie, MD,a Clare Gilbert, MD, FRCOphth,c and Paul G. Steinkuller, MDa PURPOSE To summarize the available data on pediatric blinding disease worldwide and to present current information on childhood blindness in the United States. METHODS A systematic search of world literature published since 1999 was conducted. Data also were solicited from each state school for the blind in the United States. RESULTS In developing countries, 7% to 31% of childhood blindness and visual impairment is avoidable, 10% to 58% is treatable, and 3% to 28% is preventable. Corneal opacification is the leading cause of blindness in Africa, but the rate has decreased significantly from 56% in 1999 to 28% in 2012. There is no national registry of the blind in the United States, and most schools for the blind do not maintain data regarding the cause of blindness in their students. From those schools that do have such information, the top three causes are cortical visual impairment, optic nerve hypoplasia, and retinopathy of prematurity, which have not changed in past 10 years. CONCLUSIONS There are marked regional differences in the causes of blindness in children, apparently based on socioeconomic factors that limit prevention and treatment schemes. In the United States, the 3 leading causes of childhood blindness appear to be cortical visual impairment, optic nerve hypoplasia, and retinopathy of prematurity; a national registry of the blind would allow accumulation of more complete and reliable data for accurate determination of the prevalence of each. -
39Th Annual Meeting
North American Neuro-Ophthalmology Society 39th Annual Meeting February 9–14, 2013 Snowbird Ski Resort • Snowbird, Utah POSTER PRESENTATIONS Tuesday, February 12, 2013 • 6:00 p.m. – 9:30 p.m. Authors will be standing by their posters during the following hours: Odd-Numbered Posters: 6:45 p.m. – 7:30 p.m. Even-Numbered Posters: 7:30 p.m. – 8:15 p.m. The Tour of Posters has been replaced with Distinguished Posters. The top-rated posters this year are marked with a “*” in the Syllabus and will have a ribbon on their poster board. Poster # Title Presenting Author 1* Redefining Wolfram Syndrome in the Molecular Era Patrick Yu-Wai-Man Management and Outcomes of Idiopathic Intracranial Hypertension with Moderate-Severe 2* Rudrani Banik Visual Field Loss: Pilot Data for the Surgical Idiopathic Intracranial Hypertension Treatment Trial Correlation Between Clinical Parameters And Diffusion-Weighted Magnetic Resonance 3* David M. Salvay Imaging In Idiopathic Intracranial Hypertension 4* Contrast Sensitivity Visual Acuity Defects in the Earliest Stages of Parkinsonism Juliana Matthews 5* Visual Function and Freedom from Disease Activity in a Phase 3 Trial for Relapsing Multiple Sclerosis Laura J. Balcer Dimensions of the Optic Nerve Head Neural Canal Using Enhanced Depth Imaging Optical 6* Kevin Rosenberg Coherence Tomography in Non-Arteritic Ischemic Optic Neuropathy Compared to Normal Subjects Eye Movement Perimetry: Evaluation of Saccadic Latency, Saccadic Amplitude, and Visual 7* Matthew J. Thurtell Threshold to Peripheral Visual Stimuli in Young Compared With Older Adults 9* Advanced MRI of Optic Nerve Drusen: Preliminary Findings Seth A. Smith 10* Clinical Features of OPA1-Related Optic Neuropathy: A Retrospective Case Series Philip M. -
Ministry of Public Health of Ukraine Ukrainian Medical Stomatological Academy
Ministry of Public Health of Ukraine Ukrainian Medical Stomatological Academy Approved At the meeting of the department of neurological diseases with neurosurgery and medical genetic "__"__ ____________20___ Protocol №________ Head of department _______________ prof. Delva M.Yu. METHODICAL INSTRUCTIONS FOR THE INDEPENDENT WORK OF STUDENTS FOR PREPARATION TO PRACTICAL CLASSES AND DURING PRACTICAL CLASSES Academic subject Neurology The module № 1 General neurology Topic Syndromes of defeat oculomotor nerves. Pathology of olfactory and visual analyzers. Year of study IV Faculty Foreign Students Training (Medicine) Poltava 20___ 1.Relevance of the topic: the olfactory and visual analyzers play a role in receptor function of the nervous system. With the functions of these disorders analyzers, as well as with oculomotor disturbances faced by doctors of different specialties - neurologists, ophthalmologists, neurosurgeons, pediatricians, phthisiatricians, endocrinologists, internists. Violations of the functions of these analyzers is observed in a variety of inflammatory, demyelinating processes, tumors, trauma, endocrine disorders. The correct methodological approach to the study of functions, pathological changes of the olfactory and visual analyzers, oculomotor nerves makes it possible to deliver topical and clinical diagnosis and treatment in a timely manner. 2. Specific Objectives: To investigate the function of I, II, III, IV, VI pairs of cranial nerves, identify signs of a lesion of the nerve disorder Examine the identification functions -
Models of Octatonic and Whole-Tone Interaction: George Crumb and His Predecessors
Models of Octatonic and Whole-Tone Interaction: George Crumb and His Predecessors Richard Bass Journal of Music Theory, Vol. 38, No. 2. (Autumn, 1994), pp. 155-186. Stable URL: http://links.jstor.org/sici?sici=0022-2909%28199423%2938%3A2%3C155%3AMOOAWI%3E2.0.CO%3B2-X Journal of Music Theory is currently published by Yale University Department of Music. Your use of the JSTOR archive indicates your acceptance of JSTOR's Terms and Conditions of Use, available at http://www.jstor.org/about/terms.html. JSTOR's Terms and Conditions of Use provides, in part, that unless you have obtained prior permission, you may not download an entire issue of a journal or multiple copies of articles, and you may use content in the JSTOR archive only for your personal, non-commercial use. Please contact the publisher regarding any further use of this work. Publisher contact information may be obtained at http://www.jstor.org/journals/yudm.html. Each copy of any part of a JSTOR transmission must contain the same copyright notice that appears on the screen or printed page of such transmission. The JSTOR Archive is a trusted digital repository providing for long-term preservation and access to leading academic journals and scholarly literature from around the world. The Archive is supported by libraries, scholarly societies, publishers, and foundations. It is an initiative of JSTOR, a not-for-profit organization with a mission to help the scholarly community take advantage of advances in technology. For more information regarding JSTOR, please contact [email protected]. http://www.jstor.org Mon Jul 30 09:19:06 2007 MODELS OF OCTATONIC AND WHOLE-TONE INTERACTION: GEORGE CRUMB AND HIS PREDECESSORS Richard Bass A bifurcated view of pitch structure in early twentieth-century music has become more explicit in recent analytic writings. -
AP Music Theory Course Description Audio Files ”
MusIc Theory Course Description e ffective Fall 2 0 1 2 AP Course Descriptions are updated regularly. Please visit AP Central® (apcentral.collegeboard.org) to determine whether a more recent Course Description PDF is available. The College Board The College Board is a mission-driven not-for-profit organization that connects students to college success and opportunity. Founded in 1900, the College Board was created to expand access to higher education. Today, the membership association is made up of more than 5,900 of the world’s leading educational institutions and is dedicated to promoting excellence and equity in education. Each year, the College Board helps more than seven million students prepare for a successful transition to college through programs and services in college readiness and college success — including the SAT® and the Advanced Placement Program®. The organization also serves the education community through research and advocacy on behalf of students, educators, and schools. For further information, visit www.collegeboard.org. AP Equity and Access Policy The College Board strongly encourages educators to make equitable access a guiding principle for their AP programs by giving all willing and academically prepared students the opportunity to participate in AP. We encourage the elimination of barriers that restrict access to AP for students from ethnic, racial, and socioeconomic groups that have been traditionally underserved. Schools should make every effort to ensure their AP classes reflect the diversity of their student population. The College Board also believes that all students should have access to academically challenging course work before they enroll in AP classes, which can prepare them for AP success. -
Review Article the Status of Childhood Blindness And
[Downloaded free from http://www.meajo.org on Wednesday, January 07, 2015, IP: 41.235.88.16] || Click here to download free Android application for this journal Review Article The Status of Childhood Blindness and Functional Low Vision in the Eastern Mediterranean Region in 2012 Rajiv Khandekar, H. Kishore1, Rabiu M. Mansu2, Haroon Awan3 ABSTRACT Access this article online Website: Childhood blindness and visual impairment (CBVI) are major disabilities that compromise www.meajo.org the normal development of children. Health resources and practices to prevent CBVI are DOI: suboptimal in most countries in the Eastern Mediterranean Region (EMR). We reviewed the 10.4103/0974-9233.142273 magnitude and the etiologies of childhood visual disabilities based on the estimates using Quick Response Code: socioeconomic proxy indicators such as gross domestic product (GDP) per capita and <5‑year mortality rates. The result of these findings will facilitate novel concepts in addressing and developing services to effectively reduce CBVI in this region. The current study determined the rates of bilateral blindness (defined as Best corrected visual acuity(BCVA)) less than 3/60 in the better eye or a visual field of 10° surrounding central fixation) and functional low vision (FLV) (visual impairment for which no treatment or refractive correction can improve the vision up to >6/18 in a better eye) in children <15 years old. We used the 2011 population projections, <5‑year mortality rates and GDP per capita of 23 countries (collectively grouped as EMR). Based on the GDP, we divided the countries into three groups; high, middle‑ and low‑income nations. -
A Survey of Visual Impairment in Children Attending the Royal Blind
Eye (2002) 16, 557–561 2002 Nature Publishing Group All rights reserved 0950-222X/02 $25.00 www.nature.com/eye J Alagaratnam, TK Sharma, CS Lim and CLINICAL STUDY A survey of visual BW Fleck impairment in children attending the Royal Blind School, Edinburgh using the WHO childhood visual impairment database Abstract Introduction Purpose To assess the aetiology and The prevalence and major causes of childhood changing patterns of childhood blindness in blindness vary between countries and over one school for the blind in the UK and to time. The WHO Prevention of Blindness assess the use of the World Health Program with the International Centre for Eye Organisation Prevention of Blindness Health has developed a standard methodology (WHO/PBL) methodology and reporting form and reporting form to record the causes of in a developed country. visual impairment in children.1 The Methods One hundred and seven children methodology has been used in developing in one school for the blind and visually and middle income countries.1–3 impaired in Edinburgh were examined using This study was undertaken in order to the WHO/PBL childhood blindness assess this method in one school for blind assessment form. children in the UK. There have been two Results Of the 107 children examined, 87 previous surveys of visual impairment in The (81%) were blind or severely visually Royal Blind School, Edinburgh.4,5 These impaired (corrected visual acuity of Ͻ6/60 studies and studies from other developed (20/200) in the better eye). Perinatal related countries6 were presented in a non- blindness (40%), hereditary disease (26%) standardised way, which makes it difficult to Department of and developmental factors (26%) formed the monitor changing patterns of childhood Ophthalmology three largest aetiological categories. -
Brain Tumors : Practical Guide to Diagnosis and Treatment
Brain Tumors DK616x_C000a.indd 1 09/01/2006 8:49:40 AM NEUROLOGICAL DISEASE AND THERAPY Advisory Board Gordon H. Baltuch, M.D., Ph.D. Department of Neurosurgery University of Pennsylvania Philadelphia, Pennsylvania, U.S.A. Cheryl Bushnell, M.D., M.H.S. Duke Center for Cerebrovascular Disease Department of Medicine, Division of Neurology Duke University Medical Center Durham, North Carolina, U.S.A. Louis R. Caplan, M.D. Professor of Neurology Harvard University School of Medicine Beth Israel Deaconess Medical Center Boston, Massachusetts, U.S.A. Mark A. Stacy, M.D. Movement Disorders Center Duke University Medical Center Durham, North Carolina, U.S.A. Mark H. Tuszynski, M.D., Ph.D. Professor of Neurosciences Director, Center for Neural Repair University of California—San Diego La Jolla, California, U.S.A. DK616x_C000a.indd 2 09/01/2006 8:49:43 AM 1. Handbook of Parkinson’s Disease, edited by William C. Koller 2. Medical Therapy of Acute Stroke, edited by Mark Fisher 3. Familial Alzheimer’s Disease: Molecular Genetics and Clinical Perspectives, edited by Gary D. Miner, Ralph W. Richter, John P. Blass, Jimmie L. Valentine, and Linda A. Winters-Miner 4. Alzheimer’s Disease: Treatment and Long-Term Management, edited by Jeffrey L. Cummings and Bruce L. Miller 5. Therapy of Parkinson’s Disease, edited by William C. Koller and George Paulson 6. Handbook of Sleep Disorders, edited by Michael J. Thorpy 7. Epilepsy and Sudden Death, edited by Claire M. Lathers and Paul L. Schraeder 8. Handbook of Multiple Sclerosis, edited by Stuart D. Cook 9. Memory Disorders: Research and Clinical Practice, edited by Takehiko Yanagihara and Ronald C.