Familial Nystagmus

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Identifier 163-9-4
Title Familial Nystagmus
Ocular Movements Congenital Nystagmus; Horizontal Pendular Nystagmus; Infantile Nystagmus Syndrome; Familial Congenital Nystagmus
Creator Shirley H. Wray, M.D., Ph.D., FRCP, Professor of Neurology Harvard Medical School, Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Contributor Primary Shirley H. Wray, MD, PhD, FRCP, Professor of Neurology, Harvard Medical School; Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Subject Congenital Nystagmus; Horizontal Pendular Nystagmus; Infantile Nystagmus Syndrome; Familial Congenital Nystagmus
Presenting Symptom Oscillations of the Eyes
History The mother and her infant son both have conjugate horizontal pendular nysagmus. Diagnosis: Congenital sensory nystagmus Familial Infantile Nystagmus Syndrome (INS) The little boy is a bright active child with normal development. He has pendular nystagmus in central gaze without a head turn or head movements. He had no associated visual system defects. (See Table 10-7 Visual system disorders associated with INS Chp 10 p513. (ref 8)). Classification: The Classification of Eye Movement Abnormalities and Strabismus Working Group has recommended new names for nystagmus that begins during infancy. Three categories have been defined: 1. Infantile Nystagmus Syndrome (INS), which corresponds to what had previously been called motor or sensory forms of congenital nystagmus. 2. Fusional Maldevelopment Nystagmus Syndrome (FMNS), which corresponds to latent nystagmus occurring in association with amblyopia and strabismus and 3. Spasmus Nutans Syndrome (SNS). Diagnostic features of each of these syndromes are summarized in (ref 8). Box 10-11 Clinical features of Infantile Nystagmus Syndrome (Congenital Nystagmus Chp 10, p513) Box 10-12 Clinical features of Latent Nystagmus (FMNS) (See Ch 10 p517) Box 10-13 Clinical features of Spasmus Nutans Syndrome (See Chp 10 p519) The congenital ‘nystagmus' of INS maybe present at birth but usually develops during infancy. Although variable in wave form (the commonest are increasing-velocity and pendular), certain clinical features usually differentiate INS from other ocular oscillations. • INS is almost always conjugate and mainly horizontal, even on up or downgaze. • A torsional component to the nystagmus is probably common but may be difficult to identify clinically. • Less commonly the nystagmus of INS is mainly seesaw and such patients may have underlying disease of the retina, visual pathways or cerebellum. • Life long nystagmus that is vertical is not typical of INS, and consideration should be given to other diagnoses such as the calcium channelopathies. • Nystagmus of INS is usually accentuated by the attempt to fixate on an object, and by attention or anxiety. • Eyelid closure or convergence, usually suppress it, but occasionally the nystagmus is evoked by viewing a near target. • Often nystagmus decreases when the eyes are moved into a particular position in the orbit; this is called the null point or zone, and corresponds to the range of eye position within which slow-phase eye velocity is at a minimum. • In some patients, especially albinos, the nystagmus periodically reverses direction, but this reversal seldom occurs in the regular manner seen in the acquired form of PAN. Familial INS: INS either, with or without associated visual system abnormalities may be familial. Autosomal dominant, and sex-linked recessive forms of inheritance have been reported. In x-linked forms, the mother may show subtle ocular motor abnormalities. The hereditary forms of INS, with the characteristic wave forms should be differentiated from other genetic disorders that produce forms of nystagmus typical of cerebellar dysfunction.
Clinical This mother and her son with Infantile Nystagmys Syndrome have: • Conjugate pendular nystagmus in primary gaze • No head turn • No latent nystagmus The little boy is moving his head about during the recording and possibly masking to and fro horizontal head movements. (Look carefully at the early strip of the video).
Etiology Congenital
Disease/Diagnosis Familial Infantile Nystagmus Syndrome
Treatment Surgical procedures for congenital nystagmus are discussed in ref 8
References 1. . Abel, L.A., Wang, Z.I. and Dell'Osso, L.F.: Wavelet Analysis in Infantile Nystagmus Syndrome: Limitations and Abilities. Invest. Ophthalmol. Vis. Sci. 2008. (In Press). http://www.ncbi.nlm.nih.gov/pubmed/18450585 2. Classification of Eye Movement Abnormalities and Strabismus (CEMAS) Working Group. http://www.nei.nih.gove/news/statements/cemas 2003. 3. Cogan D. Neurology of the Ocular Muscles, 2nd Edition. Charles C. Thomas Publisher, Springfield, Ill. 1956. 4. Dell'Osso LF, Flynn JT, Daroff RB, Hereditary congenital nystagmus: an intrafamilial study. Arch Ophthalmol 1974;92:366-374. http://www.ncbi.nlm.nih.gov/pubmed/4429465 5. Dell'Osso LF, Weisman BM, Leigh RJ, Abel RJ, Sheth NV. Hereditary congenital nystagmus and gaze-holding failure: the role of the neural integrator. Neurology 1993;43:1741-1749. http://www.ncbi.nlm.nih.gov/pubmed/8414024 6. Hertle RW, Maldanado VK, Maybodi M, Yang D. Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life. Br J Ophthalmol 2002;86:670-675. http://www.ncbi.nlm.nih.gov/pubmed/12034691 7. Kerroson JB, Koenekoop RK, ArnouldVJ, Zee DS, Maumenee IH. Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6P12. Am J Ophthalmol 1998;125:64-70. http://www.ncbi.nlm.nih.gov/pubmed/9437315 8. Leigh JR, Zee DS. Diagnosis of Nystagmus and Saccadic Instrusions. Chp 10; 475-558. In: The Neurology of Eye Movements, Fourth Edition. Oxford University Press, NY 2006; 9. Oettinhg WS, Armstrong CM, Holleschau AM, DeWan AT, Summers GC. Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN). Ophthalmic Genet 2000;21:227-233. http://www.ncbi.nlm.nih.gov/pubmed/11135493
Relation is Part of 163-9-1, 163-9-2, 163-9-3, 169-28, 907-2, 936-6, 938-4, 944-8
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1979
Type Image/MovingImage
Format video/mp4
Source 16 mm Film
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E, SLC, UT 84112-5890
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s6710z12
Setname ehsl_novel_shw
Date Created 2007-03-09
Date Modified 2017-11-22
ID 188598
Reference URL https://collections.lib.utah.edu/ark:/87278/s6710z12