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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. -
Complex Strabismus and Syndromes
Complex Strabismus & Syndromes Some patients exhibit complex combinations of vertical, horizontal, and torsional strabismus. Dr. Shin treats patients with complex strabismus arising from, but not limited to, thyroid-related eye disease, stroke, or brain tumors as well as strabismic disorders following severe orbital and head trauma. The following paragraphs describe specific ocular conditions marked by complex strabismus. Duane Syndrome Duane syndrome represents a constellation of eye findings present at birth that results from an absent 6th cranial nerve nucleus and an aberrant branch of the 3rd cranial nerve that innervates the lateral rectus muscle. Duane syndrome most commonly affects the left eye of otherwise healthy females. Duane syndrome includes several variants of eye movement abnormalities. In the most common variant, Type I, the eye is unable to turn outward to varying degrees from the normal straight ahead position. In addition, when the patient tries to look straight ahead, the eyes may cross. This may lead a person with Duane syndrome to turn his/her head toward one side while viewing objects in front of them in order to better align the eyes. When the involved eye moves toward the nose, the eye retracts slightly back into the eye socket causing a narrowing of the opening between the eyelids. In Type II, the affected eye possesses limited ability to turn inward and is generally outwardly turning. In Type III, the eye has limited inward and outward movement. All three types are characterized by anomalous co-contraction of the medial and lateral rectus muscles, so when the involved eye moves towards the nose, the globe pulls back into the orbit and the vertical space between the eyelids narrows. -
Sixth Nerve Palsy
COMPREHENSIVE OPHTHALMOLOGY UPDATE VOLUME 7, NUMBER 5 SEPTEMBER-OCTOBER 2006 CLINICAL PRACTICE Sixth Nerve Palsy THOMAS J. O’DONNELL, MD, AND EDWARD G. BUCKLEY, MD Abstract. The diagnosis and etiologies of sixth cranial nerve palsies are reviewed along with non- surgical and surgical treatment approaches. Surgical options depend on the function of the paretic muscle, the field of greatest symptoms, and the likelihood of inducing diplopia in additional fields by a given procedure. (Comp Ophthalmol Update 7: xx-xx, 2006) Key words. botulinum toxin (Botox®) • etiology • sixth nerve palsy (paresis) Introduction of the cases, the patients had hypertension and/or, less frequently, Sixth cranial nerve (abducens) palsy diabetes; 26% were undetermined, is a common cause of acquired 5% had a neoplasm, and 2% had an horizontal diplopia. Signs pointing aneurysm. It was noted that patients toward the diagnosis are an who had an aneurysm or neoplasm abduction deficit and an esotropia had additional neurologic signs or increasing with gaze toward the side symptoms or were known to have a of the deficit (Figure 1). The diplopia cancer.2 is typically worse at distance. Measurements are made with the Anatomical Considerations uninvolved eye fixing (primary deviation), and will be larger with the The sixth cranial nerve nuclei are involved eye fixing (secondary located in the lower pons beneath the deviation). A small vertical deficit may fourth ventricle. The nerve on each accompany a sixth nerve palsy, but a side exits from the ventral surface of deviation over 4 prism diopters the pons. It passes from the posterior Dr. O’Donnell is affiliated with the should raise the question of cranial fossa to the middle cranial University of Tennessee Health Sci- additional pathology, such as a fourth fossa, ascends the clivus, and passes ence Center, Memphis, TN. -
Albinism Terminology
Albinism Terminology Oculocutaneous Albinism (OCA): Oculocutaneous (pronounced ock-you-low-kew- TAIN-ee-us) Albinism is an inherited genetic condition characterized by the lack of or diminished pigment in the hair, skin, and eyes. Implications of this condition include eye and skin sensitivities to light and visual impairment. Ocular Albinism (OA): Ocular Albinism is an inherited genetic condition, diagnosed predominantly in males, characterized by the lack of pigment in the eyes. Implications of this condition include eye sensitivities to light and visual impairment. Hermansky Pudlak Syndrome (HPS): Hermansky-Pudlak Syndrome is a type of albinism which includes a bleeding tendency and lung disease. HPS may also include inflammatory bowel disease or kidney disease. The severity of these problems varies much from person to person, and the condition can be difficult to diagnose with traditional blood tests Chediak Higashi Syndrome: Chediak Higashi Syndrome is a type of albinism in which the immune system is affected. Illnesses and infections are common from infancy and can be severe. Issues also arise with blood clotting and severe bleeding. Melanin: Melanin is pigment found in a group of cells called melanocytes in most organisms. In albinism, the production of melanin is impaired or completely lacking. Nystagmus: Nystagmus is an involuntary movement of the eyes in either a vertical, horizontal, pendular, or circular pattern caused by a problem with the visual pathway from the eye to the brain. As a result, both eyes are unable to hold steady on objects being viewed. Nystagmus may be accompanied by unusual head positions and head nodding in an attempt to compensate for the condition. -
Expanding the Phenotypic Spectrum of PAX6 Mutations: from Congenital Cataracts to Nystagmus
G C A T T A C G G C A T genes Article Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus Maria Nieves-Moreno 1,* , Susana Noval 1 , Jesus Peralta 1, María Palomares-Bralo 2 , Angela del Pozo 3 , Sixto Garcia-Miñaur 4, Fernando Santos-Simarro 4 and Elena Vallespin 5 1 Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (S.N.); [email protected] (J.P.) 2 Department of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] 3 Department of Bioinformatics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] 4 Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (S.G.-M.); [email protected] (F.S.-S.) 5 Department of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] * Correspondence: [email protected] Abstract: Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families Citation: Nieves-Moreno, M.; Noval, with confirmed mutations in PAX6, and very different clinical manifestations. -
Retinitis Pigmentosa, Ataxia, and Peripheral Neuropathy
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.46.3.206 on 1 March 1983. Downloaded from Journal of Neurology, Neurosurgery, and Psychiatry 1983;46:206-213 Retinitis pigmentosa, ataxia, and peripheral neuropathy RR TUCK, JG McLEOD From the Department ofMedicine, University ofSydney, Australia SUMMARY The clinical features of four patients with retinitis pigmentosa, ataxia and peripheral neuropathy but with no increase in serum phytanic acid are reported. Three patients also had sensorineural deafness and radiological evidence of cerebellar atrophy. Nerve conduction studies revealed abnormalities of sensory conduction and normal or only mild slowing of motor conduc- tion velocity. Sural nerve biopsy demonstrated a reduction in the density of myelinated fibres. There were no onion bulb formations. These cases clinically resemble Refsum's disease, but differ in having no detectable biochemical abnormality, and a peripheral neuropathy which is not hypertrophic in type. They may represent unusual cases of spinocerebellar degeneration. Retinitis pigmentosa occurs infrequently as an iso- (WAIS). He had a speech impediment but was not dysar- Protected by copyright. lated finding in otherwise healthy individuals and thric. He was of short stature, had a small head and pes families. Its association with deafness, with or with- cavus but no kyphoscoliosis. His visual acuity in the right eye was 6/60 while in the left he could count fingers only. out other neurological abnormalities is much less The right visual field was constricted but the left could not common but nevertheless well recognised.1 In be tested. The optic discs were pale, the retinal vessels heredopathia atactica polyneuritiformis (Refsum's small in diameter and throughout the retinae there was disease), abetalipoproteinaemia, and the Keams- scattered "bone corpuscle" pigmentation. -
Management of Symptomatic Latent Nystagmus
MANAGEMENT OF SYMPTOMATIC LATENT NYSTAGMUS CHRISTOPHER LIUI, MICHAEL GRESTy2 and JOHN LEEI London SUMMARY hood squint2,3,6,7 and dissociated vertical deviation Most patients with latent nystagmus are asymptomatic (DVD).8 It is a benign condition and is not associated with and do not require treatment. We discuss the manage neurological diseases.2 Under most circumstances, the ment by botulinum toxin injection and surgery of five demonstration of latent nystagmus is of trivial importance cases of latent nystagmus in which the patients suffered and the majority of patients are asymptomatic. The main loss of visual acuity on certain manoeuvres as a con reported problem with latent nystagmus is in the assess 9 sequence of an exacerbation of the nystagmus amplitude. ment of monocular visual acuity, especially in children The importance of eye movement recordings for accurate with strabismus.lO,ll A further variety of latent nystagmus diagnosis is stressed and the investigative role of bot may be encountered in which the direction of nystagmus ulinum toxin injection is discussed. Extraocular muscle beat is independent of the laterality of covering. In our surgery is helpful in some cases of symptomatic latent experience patients with this variety are rare and on analy· nystagmus. sis have turned out to be cases of congenital nystagmuses. They are not accompanied by strabismus. The term 'latent nystagmus' is commonly used in clinical We report five patients with latent nystagmus all of practice to refer to a nystagmus which appears or mark whom had problems directly related to their nystagmus. edly enhances when one or other eye is covered. -
Horizontal Gaze Nystagmus: the Science and the Law a RESOURCE GUIDE for JUDGES, PROSECUTORS and LAW ENFORCEMENT
Horizontal Gaze Nystagmus: The Science and The Law A RESOURCE GUIDE FOR JUDGES, PROSECUTORS AND LAW ENFORCEMENT National Traffic Law Center 2nd Edition, February 2021 Horizontal Gaze Nystagmus: The Science and The Law A RESOURCE GUIDE FOR JUDGES, PROSECUTORS AND LAW ENFORCEMENT The first edition of this manual was prepared under Cooperative Agreement Number DTNH22-92-Y-05378 from the U.S. Department of Transportation National Highway Traffic Safety Administration. This second edition was updated under Cooperative Agreement Numbers DTNH22-13-H-00434 and 693JJ91950010. Points of view or opinions in this document are those of the authors and do not necessarily represent the official position or policies of the U.S. Department of Transportation, National District Attorneys Association, or the National Traffic Law Center. National Traffic Law Center Table of Contents NATIONAL TRAFFIC LAW CENTER . iii PREFACE . iv ACKNOWLEDGMENTS . v FOREWORD TO THE SECOND EDITION (2020) . vi FOREWORD TO THE FIRST EDITION (1999) . vii INTRODUCTION . 1 THE SCIENCE . 4 Section I: What are Normal Eye Movements? . 4 Section II: What is “Nystagmus”? ...........................................5 Section III: Intoxication and Eye Movements.................................7 Alcohol Gaze Nystagmus (AGN) . 7 Positional Alcohol Nystagmus (PAN) . 8 AGN and PAN Compared ................................................9 Section IV: The HGN and VGN Tests . 9 Development of the Standardized Field Sobriety Test Battery .................9 Administering the HGN Test . 11 Administering the VGN Test . 14 Section V: Other Types of Nystagmus and Abnormal Eye Movements...........15 Nystagmus Caused by Non-Alcohol Related Disturbance of the Vestibular System . .15 Nystagmus Caused by Non-Impairing Drugs ..............................15 Nystagmus Caused by Neural Activity ....................................15 Nystagmus Due to Other Pathological Disorders . -
GAZE and AUTONOMIC INNERVATION DISORDERS Eye64 (1)
GAZE AND AUTONOMIC INNERVATION DISORDERS Eye64 (1) Gaze and Autonomic Innervation Disorders Last updated: May 9, 2019 PUPILLARY SYNDROMES ......................................................................................................................... 1 ANISOCORIA .......................................................................................................................................... 1 Benign / Non-neurologic Anisocoria ............................................................................................... 1 Ocular Parasympathetic Syndrome, Preganglionic .......................................................................... 1 Ocular Parasympathetic Syndrome, Postganglionic ........................................................................ 2 Horner Syndrome ............................................................................................................................. 2 Etiology of Horner syndrome ................................................................................................ 2 Localizing Tests .................................................................................................................... 2 Diagnosis ............................................................................................................................... 3 Flow diagram for workup of anisocoria ........................................................................................... 3 LIGHT-NEAR DISSOCIATION ................................................................................................................. -
Diagnostic Difficulties of Cogan Syndrome
ical C lin as Masiak et al., J Clin Case Rep 2016, 6:1 C e f R o l e DOI: 10.4172/2165-7920.1000691 a p n o r r t u s o J Journal of Clinical Case Reports ISSN: 2165-7920 Case Report Open Access Diagnostic Difficulties of Cogan Syndrome Anna Masiak1*, Agnieszka Waśkowska2, Paweł Lipowski2, Żaneta Smoleńska1, Tomasz Przewoźny3 and Zbigniew Zdrojewski1 1Clinic of Internal Medicine, Connective Tissue Diseases and Geriatrics, Medical University of Gdańsk, Poland 2Clinic of Ophthalmology, Medical University of Gdańsk, Poland 3Clinic of Otolaryngology, Medical University of Gdańsk, Poland Abstract Cogan’s syndrome (CS) is a very rare disorder of unknown origin characterised by inflammatory eye disease and vestibuloauditory symptoms. According to the International Chapel Hill Consensus Conference Nomenclature of Vasculitides, CS is defined as “variable vessel vasculitis”. We present the case of a 44-year old male, primarily diagnosed and treated for large/medium vessel vasculitis probably due to indeterminate colitis, who finally developed CS. Difficulties in the diagnosis of this rare disease are also discussed. Keywords: Cogan syndrome; Exophtalmos; Inflammatory eye disease; Chronic diarrhea; Sudden hearing loss Introduction Cogan’s syndrome (CS) is a rare disorder characterised by inflammatory eye disease and vestibuloauditory symptoms. In about 30% of cases it can be associated with other systemic inflammatory manifestations such as fever, arthralgia, skin rash, gastrointestinal tract involvement and vasculitis [1]. Vasculitic manifestations include mainly arteritis affecting small, medium or large arteries and according to the International Chapel Hill Consensus Conference Nomenclature of Vasculitides, CS is defined as “variable vessel vasculitis” [1]. -
13 Acquired Ocular Motility Disorders and Nystagmus JANET C
13 Acquired Ocular Motility Disorders and Nystagmus JANET C. RUCKER Introduction Supranuclear Ocular Motility Control Clinical Approach and Diagnostic Tools Abnormal Spontaneous Eye Movements Ophthalmoparesis Nystagmus Extraocular Muscles Saccadic Intrusions The Neuromuscular Junction Cranial Nerve Palsies References Brainstem Disorders Key Points Eye movement disorders may be considered in two categories: those that cause incomplete eye movements (ophthalmoparesis) and those that cause excessive eye movements (saccadic intrusions and nystagmus). Central to an understanding and correct diagnosis of abnormal eye movements is the evaluation of ocular alignment, ocular motility, and each functional class of eye movements: optokinetic, vestibular, vergence, smooth pursuit, and saccades. Ophthalmoparesis is caused by dysfunction of extraocular muscles, the neuromuscular junction, cranial nerves, cranial nerve nuclei, and internuclear and supranuclear connections. The initial pathologic eye movement in nystagmus is a slow drift of the eye away from the desired position, whereas the initial pathologic eye movement in saccadic intrusions is an inappropriate saccade that intrudes on fixation. Identification of the characteristics of nystagmus (physiologic versus pathologic, jerk versus pendular) is necessary for diagnostic evaluation and treatment. Introduction The goal of all normal eye movements is to place and maintain an object of visual interest on each fovea simultaneously to allow visualization of a stable, single object. Any deviation -
Management of Nystagmus in Children: a Review of the Literature and Current Practice in UK Specialist Services
Eye https://doi.org/10.1038/s41433-019-0741-3 REVIEW ARTICLE Management of nystagmus in children: a review of the literature and current practice in UK specialist services 1,2 3 3 4 5 6 1,2 6 J. E. Self ● M. J. Dunn ● J. T. Erichsen ● I. Gottlob ● H. J. Griffiths ● C. Harris ● H. Lee ● J. Owen ● 7 1 8,9 10 J. Sanders ● F. Shawkat ● M. Theodorou ● J. P. Whittle ● Nystagmus UK Eye research group (NUKE) Received: 18 October 2019 / Accepted: 24 November 2019 © The Author(s) 2020. This article is published with open access Abstract Nystagmus is an eye movement disorder characterised by abnormal, involuntary rhythmic oscillations of one or both eyes, initiated by a slow phase. It is not uncommon in the UK and regularly seen in paediatric ophthalmology and adult general/ strabismus clinics. In some cases, it occurs in isolation, and in others, it occurs as part of a multisystem disorder, severe visual impairment or neurological disorder. Similarly, in some cases, visual acuity can be normal and in others can be severely degraded. Furthermore, the impact on vision goes well beyond static acuity alone, is rarely measured and may vary on a minute-to-minute, day-to-day or month-to-month basis. For these reasons, management of children with nystagmus in 1234567890();,: 1234567890();,: the UK is varied, and patients report hugely different experiences and investigations. In this review, we hope to shine a light on the current management of children with nystagmus across five specialist centres in the UK in order to present, for the first time, a consensus on investigation and clinical management.