Aproximación diagnóstica en nistagmus en edad pediátrica

  1. Ana Dorado López-Rosado 1
  2. Alicia Muñoz-Gallego 1
  3. Pilar Tejada-Palacios 12
  1. 1 Hospital Universitario 12 de Octubre
    info

    Hospital Universitario 12 de Octubre

    Madrid, España

    ROR https://ror.org/00qyh5r35

  2. 2 Universidad Complutense de Madrid
    info

    Universidad Complutense de Madrid

    Madrid, España

    ROR 02p0gd045

Revista:
Acta estrabológica: publicación oficial de la Sociedad Española de Estrabología, Pleóptica, Ortóptica, Visión Binocular, Reeducación y Rehabilitación Visual

ISSN: 0210-4695 1989-7278

Año de publicación: 2018

Volumen: 47

Número: 2

Páginas: 151-176

Tipo: Artículo

Otras publicaciones en: Acta estrabológica: publicación oficial de la Sociedad Española de Estrabología, Pleóptica, Ortóptica, Visión Binocular, Reeducación y Rehabilitación Visual

Resumen

El nistagmus en la infancia puede tener diversas etiologías, entre ellas destacan las oculares, neurológicas y sindrómicas. El tipo de nistagmus más frecuente en la edad pediátrica es el síndrome de nistagmus infantil asociado a patología ocular. Conocer los tipos de nistagmus y sus características, además de realizar una adecuada evaluación del paciente, contribuye a lograr una correcta orientación etiológica y un diagnóstico preciso, lo cual es muy importante dado que de ello puede depender el pronóstico visual y vital del niño. El objetivo de este artículo es aportar una actualización diagnóstica del nistagmus en la infancia.

Referencias bibliográficas

  • Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV. The clinical evaluation of infantile nystagmus: What to do first and why. Ophthalmic Genet. 2017; 38: 22-33.
  • Sarvananthan N, Surendran M, Roberts EO, Jain S, Thomas S, Shah N. The prevalence of nystagmus: the Leicestershire nystagmus survey. Invest Ophthalmol Vis Sci. 2009;50:5201-6.
  • Hertle RW. Nystagmus in Infancy and Childhood. Semin Ophthalmol. 2009;23:307-17.
  • Stjerna S, Sairanen V, Gröhn R, Andersson S, Metsäranta M, Lano A. Visual Fixation in Human Newborns Correlates with Extensive White Matter Networks and Predicts Long-Term Neurocognitive Development. J Neurosci. 2015;35:4824-9.
  • Gottlob I, Proudlock FA. Aetiology of infantile nystagmus. Curr Opin Neurol. 2014;27:83-91.
  • Abadi RV. Mechanisms underlying nystagmus. J R Soc Med. 2002;95:231-4.
  • Hertle RW, Dell’Osso LF. Nystagmus In Infancy and Childhood: Current Concepts in Mechanisms, Diagnoses, and Management. USA: Oxford; 2013.
  • Hertle R. A Classification of Eye Movement Abnormalities and Strabismus (CEMAS). 2001
  • Hertle RW. Nystagmus in Infancy and Childhood: Characteristics and Evidence for Treatment. Am Orthopt J. 2010;60:48-58.
  • Tychsen L, Richards M, Wong A, Foeller P, Bradley D, Burkhalter A. The neural mechanism for Latent (fusion maldevelopment) nystagmus. J NeuroOphthalmol Off J North Am Neuro-Ophthalmol Soc. 2010;30:276-83.
  • Gelbart SS, Hoyt CS. Congenital nystagmus: a clinical perspective in infancy. Graefes Arch Klin Exp Ophthalmol. 1988;226:178-80.
  • Cibis GW, Fitzgerald KM. Electroretinography in congenital idiopathic nystagmus. Pediatr Neurol. 1993;9:369-71.
  • Abadi RV, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol. 2002;86:1152-60.
  • Spielmann A. Clinical rationale for manifest congenital nystagmus surgery. J AAPOS. 2000;4:67-74.
  • 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;86:670-5.
  • Hertle RW. Examination and refractive management of patients with nystagmus. Surv Ophthalmol. 2000;45:215-22.
  • Khanna S, Dell’Osso LF. The diagnosis and treatment of infantile nystagmus syndrome (INS). ScientificWorldJournal. 2006;6:1385-97.
  • homas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Brain. 2008;131:1259-67.
  • Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch Ophthalmol Chic Ill 1960. 2007;125:1255-63.
  • Self J, Lotery A. A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN). Ophthalmic Genet. 2007;28:187-91.
  • Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP. Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet. 2014;23:4086-93.
  • Holmström G, Bondeson ML, Eriksson U, Åkerblom H, Larsson E. «Congenital» nystagmus may hide various ophthalmic diagnoses. Acta Ophthalmol (Copenh). 2014;92:412-6.
  • Brodsky MC. Pediatric Neuro-Ophthalmology. 3a ed. New York: Springer; 2016.
  • Leigh RJ, Rucker JC. Nystagmus and related ocular motility disorders. In: Miller NR, Newman NJ, eds. Walsh abd Hoyt´s Clinical Neuro-Ophthalmology. Philadelphia. Lippincott Williams & Wilkins; 2005:1133-1173.
  • Ehrt O. Infantile and acquired nystagmus in childhood. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc. 2012;16:567-72.
  • Kim JI, Dell’Osso LF, Traboulsi E. Latent/manifest latent and ‘uniocular’ acquired pendular nystagmus masquerading as spasmus nutans. J Neuro-Ophthalmol. 2003;22:198-203.
  • Kiblinger GD, Wallace BS, Hines M, Siatkowski RM. Spasmus nutans-like nystagmus is often associated with underlying ocular, intracranial, or systemic abnormalities. J Neuro-Ophthalmol. 2007;27:118-22.
  • Reginald AY, Tandon A, Donelyl J, Bartel U, Buncic R. Nystagmus as a presenting sign in optic nerve glioma: The last decade. JAAPOS. 2010;14:e6.
  • Arnoldi KA, Tychsen L. Prevalence of intracranial lesions in children initially diagnosed with disconjugate nystagmus (spasmus nutans). J Pediatr Ophthalmol Strabismus. 1995;32:296-301.
  • Smith DE, Fitzgerald K, Stass Isern M, Cibis GW. Electroretinography is necessary for spasmus nutans diagnosis. Pediatr Neurol. 2000;23:33-6.
  • Gottlob I, Helbling A. Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. Am J Ophthalmol. 1999;128:770-2.
  • Volpe JJ. Volpe’s neurology of the newborn. 6th edition. Philadelphia. Elsevier; 2018.
  • Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 2009; 132: 3199-230.
  • Nguyen A, Borruat FX. Teaching Video NeuroImages: Heimann-Bielschowsky phenomenon: A harmless monocular nystagmus. Neurology. 2018;90:e731.
  • Surachatkumtonekul T, Pamonvaechavan P. Unilateral vertical nystagmus: the Heimann-Bielschowsky phenomenon. J Med Assoc Thail Chotmaihet Thangphaet. 2009;92:373-6.
  • Jacob FD, Ramaswamy V, Goez HR. Acquired monocular nystagmus as the initial presenting sign of a chiasmal glioma. Can J Neurol Sci J Can Sci Neurol. 2010;37:96-7.
  • Schulz R, Tomka Hoffmeister M, Woermann FG, Hoppe M, Schittkowski MP, Ebner A, et al. Epileptic monocular nystagmus and ictal diplopia as cortical and subcortical dysfunction. Epilepsy Behav Case Rep. 2013;1:89-91.
  • Marmor MF, Choi SS, Zawadzki RJ, Werner JS. Visual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol Chic Ill 1960. 2008;126:907-13.
  • Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003;72:1565-70.
  • Pal B, Mohamed MD, Keen TJ, Williams GA, Bradbury JA, Sheridan E, et al. A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. J Med Genet. 2004; 41:772-7.
  • Hatton DD, Schwietz E, Boyer B, Rychwalski P. Babies Count: the national registry for children with visual impairments, birth to 3 years. J AAPOS. 2007;11:351-5.
  • Jacobson L, Hellström A, Flodmark O. Large cups in normal-sized optic discs: a variant of optic nerve hypoplasia in children with periventricular leukomalacia. Arch Ophthalmol Chic Ill 1960. 1997;115:1263-9.
  • Brodsky MC. Semiology of periventricular leucomalacia and its optic disc morphology. Br J Ophthalmol. 2003;87:1309-10.
  • Rahi JS, Cable N, British Childhood Visual Impairment Study Group. Severe visual impairment and blindness in children in the UK. Lancet Lond Engl. 2003;362:1359-65.
  • Gonzalez Manrique M, Noval Marin S, Rodríguez Sánchez JM. Actualización en nistagmus pediátrico. Acta Estrabológica. 2013;42:1-34.
  • Martini G, Netto AA, Morcillo AM, Gagliardo HGRG, de Oliveira DF. The LEA Grating Test in assessing detection grating acuity in normal infants less than 4 months of age. J Am Assoc Pediatr Ophthalmol Strabismus. 2014;18:563-6.
  • Wester ST, Rizzo JF, Balkwill MD, Wall C. Optokinetic Nystagmus as a Measure of Visual Function in Severely Visually Impaired Patients. Invest Ophthalmol Vis Sci. 2007;48:4542-8.
  • Dell’Osso LF, Jacobs JB. An expanded nystagmus acuity function: intra- and intersubject prediction of best-corrected visual acuity. Doc Ophthalmol Adv Ophthalmol. 2002;104:249-76.
  • Noval S, González Manrique M, Rodríguez Del Valle JM, Rodríguez-Sánchez JM. Abnormal Head Position in Infantile Nystagmus Syndrome. Ophthalmol. 2011;3:1-7.
  • Hertle RW, Reznick L, Yang D. Infantile aperiodic alternating nystagmus. J Pediatr Ophthalmol Strabismus. 2009;46:93-103.
  • Trobe JD. Photophobia in anterior visual pathway disease. J Neuro Ophthalmol Off J North Am Neuro-Ophthalmol Soc. 2002;22:1-2.
  • Brodsky MC, Fray KJ. The prevalence of strabismus in congenital nystagmus: The influence of anterior visual pathway disease. J Am Assoc Pediatr Ophthalmol Strabismus JAAPOS. 1997;1:16-9.
  • Hertle RW. Examination and Refractive Management of Patients with Nystagmus. Surv Ophthalmol. 2000;45:215-22.
  • Wang J, Wyatt LM, Felius J, Stager DR, Stager DR, Birch EE. Onset and Progression of With-the-Rule Astigmatism in Children with Infantile Nystagmus Syndrome. Invest Ophthalmol Vis Sci. 2010;51:594-601.
  • Atkinson J, Braddick OJ, Durden K, Watson PG, Atkinson S. Screening for refractive errors in 6-9 month old infants by photorefraction. Br J Ophthalmol. 1984;68:105-12.
  • Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet EJHG. 2014; 22: 344-9.
  • Sharan S, Mirzayans F, Footz T, Walter M, Levin AV. Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes. J AAPOS. 2008; 12: 340-3.
  • Birch EE, Stager DR. The critical period for surgical treatment of dense congenital unilateral cataract. Invest Ophthalmol Vis Sci. 1996;37:1532-8.
  • Felius J, Busettini C, Lynn MJ, Hartmann EE, Lambert SR, Infant Aphakia Treatment Study Group. Nystagmus and related fixation instabilities following extraction of unilateral infantile cataract in the Infant Aphakia Treatment Study (IATS). Invest Ophthalmol Vis Sci. 2014; 55:5332-7.
  • Friendly DS. Preschool visual acuity screening tests. Trans Am Ophthalmol Soc. 1978;76:383-480.
  • Hall DMB, Stewart Brown S. Screening in child health. Br Med Bull. 1998;54:929-943.
  • Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ. Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. Ophthalmology. 2013;120:2714-24.
  • Mohammad S, Gottlob I, Kumar A, Thomas M, Degg C, Sheth V. The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography. Ophthalmology. 2011;118:1645-52.
  • Greenberg JP, Sherman J, Zweifel SA, Chen RWS, Duncker T, Kohl S. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. JAMA Ophthalmol. 2014;132:437-45.
  • Sheth NV, Dell’Osso LF, Leigh RJ, Van Doren CL, Peckham HP. The effects of afferent stimulation on congenital nystagmus foveation periods. Vision Res. 1995;35:2371-82.
  • Surachatkumtonekul T, Ruangvaravate N, Sriyakul C. Visual electrophysiology in congenital nystagmus with normal fundus. J Med Assoc Thail Chotmaihet Thangphaet. 2009;92:224-8.
  • Apkarian P. A practical approach to albino diagnosis. VEP misrouting across the age span. Ophthalmic Paediatr Genet. 1992;13:77-88.
  • Shallo Hoffmann J, Apkarian P. Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus. Invest Ophthalmol Vis Sci. 1993;34:682-9.
  • Batmanabane V, Heon E, Dai T, Muthusami P, Chen S, Reginald A, et al. The role of MR imaging in investigating isolated pediatric nystagmus. Pediatr Radiol. 2016;46:1721-7.
  • Shammari MA, Elkhamary SM, Khan AO. Intracranial pathology in young children with apparently isolated nystagmus. J Pediatr Ophthalmol Strabismus. 2012;49:242-6.
  • Denis D, Girard N, Toesca E, Zanin E, Gambarelli N, Lebranchu P. MRI in congenital nystagmus. J Fr Ophtalmol. 2010;33:189-205.
  • Bowen M, Peragallo JH, Kralik SF, Poretti A, Huisman TAGM, Soares BP. Magnetic resonance imaging findings in children with spasmus nutans. J AAPOS. 2017;21:127-30.
  • Taylor D. Congenital tumours of the anterior visual system with dysplasia of the optic discs. Br J Ophthalmol. 1982;66:455-63.
  • Hertle RW, Dell’Osso LF, FitzGibbon EJ, Caruso RC, Butman JA, Yang D. Clinical, radiographic, and electrophysiologic findings in patients with achiasma or hypochiasma. Neuro-Ophthalmol. 2001;26:43-57.
  • Richards MD, Wong A. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management. Can J Ophthalmol J Can Ophtalmol. 2015;50:400-8.