Nystagmus, Congenital Clinical Presentation

  • Author: Theodore Curtis, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Jan 26, 2010
 

History

  • Establishing the precise age of onset is helpful in differentiating between sensory deficit and idiopathic infantile forms. Spasmus nutans rarely is seen prior to age 4 months.
  • Onset prior to age 2 months, particularly in the setting of gaze-associated variable intensity and torticollis, strongly suggests idiopathic infantile nystagmus.
  • Patients with infantile nystagmus due to albinism may have a positive family history and often appear photosensitive.
  • A history of infantile strabismus increases the likelihood of latent or manifest latent nystagmus.
  • A history of abnormal head movements (bobbing or nodding) or torticollis raises the possibility of spasmus nutans.
  • CNS disease can produce many other forms of nystagmus and always must be considered. A history of failure to thrive or other evidence of neurologic dysfunction should prompt immediate investigation.
  • Older children and adults with a history of infantile nystagmus typically deny oscillopsia but frequently may have signs and symptoms of accommodative dysfunction. These signs and symptoms include asthenopia, headaches, avoidance of near tasks, tearing, and blurry vision.
  • Both idiopathic infantile nystagmus and many forms of sensory deficit nystagmus have a familial pattern. X-linked, autosomal dominant, and autosomal recessive modes of inheritance have been reported.
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Physical

  • Both sensory deficit nystagmus and idiopathic infantile nystagmus are almost always bilateral, symmetric, and conjugate.
  • Eye movements usually are horizontal and remain so during vertical gaze (uniplanar) rather than changing to a gaze-evoked vertical nystagmus. The nystagmus disappears during sleep.
  • Nystagmus intensity (a product of the frequency and amplitude) often increases with fixation effort, attention, or anxiety, and diminishes with convergence.
  • Various waveforms have been described.
    • Both pendular and jerk types have been documented to occur in idiopathic infantile and sensory deficit nystagmus. Nystagmus associated with albinism has characteristics similar to idiopathic infantile nystagmus.
    • Latent and manifest latent nystagmus always are jerk-type with the fast phase in the direction of the fixing eye and decreasing velocity of the slow phase; the nystagmus is larger in the amblyopic or nonfixing eye, and amplitude decreases in adduction.
    • Spasmus nutans classically is a triad of nystagmus, head nodding, and torticollis. The nystagmus is disconjugate, high frequency, small amplitude, pendular, and intermittent. It is suppressed with head nodding. A head tilt often is present.
  • The hallmark of idiopathic infantile nystagmus is a gaze-dependent, variable intensity resulting in a "null zone" where nystagmus is least marked and visual acuity is maximized. This often corresponds to adoption of an anomalous head posture and is frequently the stated reason for referral.
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Causes

  • Idiopathic infantile nystagmus is believed to be due to a primary abnormality in oculomotor control. Increasing evidence suggests a genetic mechanism with one gene mapped to the X chromosome and another gene mapped to band 6p12. Hackett et al have found evidence that mutations in the calcium/calmodulin-dependent serine protein kinase (CASK) gene are frequently associated with congenital nystagmus and X-linked mental retardation.[1]
  • Many ocular disorders have been associated with sensory deficit nystagmus. This is not meant to be an exhaustive listing. The variety of sensory causes suggests that the underlying cause is a failure of sensorimotor integration due to reduced vision and/or contrast sensitivity.
    • Early (usually bilateral) visual deprivation (eg), congenital cataracts, severe glaucoma, Peters anomaly
    • Foveal hypoplasia (eg, aniridia, albinism [nystagmus associated with albinism has characteristics similar to idiopathic infantile nystagmus])
    • Retinal disease (eg, Leber congenital amaurosis, achromatopsia, macular toxoplasmosis [especially if bilateral])
    • Retinal detachment (eg, severe retinopathy of prematurity, posterior persistent hyperplastic primary vitreous, familial exudative vitreoretinopathy)
    • Optic nerve abnormalities (eg, hypoplasia, coloboma, atrophy)
    • Cortical visual impairment from perinatal insult or structural CNS abnormality
  • Nystagmus associated with albinism is the result of multifactorial visual impairment. Anatomical findings include abnormal ocular pigmentation, foveal hypoplasia, abnormally increased chiasmal decussation, and high cylindrical refractive errors. Several subtypes have been described. Most are autosomal recessive, but all modes of inheritance have been described.
  • Latent nystagmus is a benign condition that appears when one eye is covered, or when light stimulus to one eye is diminished. Latent nystagmus can coexist with manifest nystagmus (in which case the nystagmus amplitude increases with occlusion). Latent nystagmus is a jerk nystagmus with the fast phase toward the side of the fixing eye. It often is seen following surgery for infantile esotropia and probably results from subnormal binocular interaction. Visual acuity measurement should be performed using the polarized vectograph or blurring one eye with a high plus lens to avoid iatrogenic reduction of acuity with occlusion. So-called manifest latent nystagmus can occur if monocular visual loss occurs in this setting.
  • The cause of spasmus nutans is unknown. Some studies have found an association with children from lower socioeconomic status, as well as coexisting strabismus and refractive error. Chiasmal glioma can present with an identical appearing nystagmus prior to affecting the anterior visual pathway.
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Contributor Information and Disclosures
Author

Theodore Curtis, MD  Assistant Professor, Department of Ophthalmology, University of Colorado; Consulting Staff, Rocky Mountain Lions Eye Institute

Theodore Curtis, MD is a member of the following medical societies: American Academy of Ophthalmology and American Association for Pediatric Ophthalmology and Strabismus

Disclosure: Nothing to disclose.

Coauthor(s)

David T Wheeler, MD  Associate Professor, Departments of Ophthalmology and Pediatrics, Oregon Health & Science University

David T Wheeler, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Bartiss, OD, MD  Medical Director, Ophthalmology, Family Eye Care of the Carolinas

Michael J Bartiss, OD, MD is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, and North Carolina Medical Society

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

J James Rowsey, MD  Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD  Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

  1. Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. Dec 23 2009;[Medline].

  2. McLean R, Proudlock F, Thomas S, Degg C, Gottlob I. Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. Ann Neurol. Feb 2007;61(2):130-8. [Medline].

  3. Hertle RW, Dell'Osso LF, FitzGibbon EJ, Yang D, Mellow SD. Horizontal rectus muscle tenotomy in children with infantile nystagmus syndrome: a pilot study. J AAPOS. Dec 2004;8(6):539-48. [Medline].

  4. Hertle RW, Felius J, Yang D, Kaufman M. Eye muscle surgery for infantile nystagmus syndrome in the first two years of life. Clin Ophthalmol. 2009;3:615-24. [Medline].

  5. Arnoldi KA, Tychsen L. Prevalence of intracranial lesions in children initially diagnosed with disconjugate nystagmus (spasmus nutans) [published erratum appears in J Pediatr Ophthalmol Strabismus 1995 Nov- Dec;32(6):347]. J Pediatr Ophthalmol Strabismus. Sep-Oct 1995;32(5):296-301. [Medline].

  6. Cabot A, Rozet JM, Gerber S, et al. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. Am J Hum Genet. Apr 1999;64(4):1141-6. [Medline].

  7. Golubovic S, Marjanovic S, Cvetkovic D, Manic S. The application of hard contact lenses in patients with congenital nystagmus. Fortschr Ophthalmol. 1989;86(5):535-9. [Medline].

  8. Harris C, Berry D. A developmental model of infantile nystagmus. Semin Ophthalmol. 2006;21:63-9. [Medline].

  9. Helveston EM, Ellis FD, Plager DA. Large recession of the horizontal recti for treatment of nystagmus. Ophthalmology. Aug 1991;98(8):1302-5. [Medline].

  10. Hertle RW, Zhu X. Oculographic and clinical characterization of thirty-seven children with anomalous head postures, nystagmus, and strabismus: the basis of a clinical algorithm. J AAPOS. Feb 2000;4(1):25-32. [Medline].

  11. Lennerstrand G, Nordbo OA, Tian S, et al. Treatment of strabismus and nystagmus with botulinum toxin type A. An evaluation of effects and complications. Acta Ophthalmol Scand. Feb 1998;76(1):27-7. [Medline].

  12. Mezawa M, Ishikawa S, Ukai K. Changes in waveform of congenital nystagmus associated with biofeedback treatment. Br J Ophthalmol. Aug 1990;74(8):472-6. [Medline].

  13. Miura K, Hertle RW, FitzGibbon EJ. Effects of tenotomy surgery on congenital nystagmus waveforms in adult patients. Part II. Dynamical systems analysis. Vision Res. Oct 2003;43(22):2357-62. [Medline].

  14. Pratt-Johnson JA. Results of surgery to modify the null-zone position in congenital nystagmus. Can J Ophthalmol. Jun 1991;26(4):219-23. [Medline].

  15. Reinecke RD. Costenbader Lecture. Idiopathic infantile nystagmus: diagnosis and treatment. J AAPOS. Jun 1997;1(2):67-82. [Medline].

  16. Sarvananthan N, Proudlock FA, Choudhuri I. Pharmacologic treatment of congenital nystagmus. Arch Ophthalmol. 2006;124:916-8. [Medline].

  17. Sprunger DT, Wasserman BN, Stidham DB. The relationship between nystagmus and surgical outcome in congenital esotropia. J AAPOS. Feb 2000;4(1):21-4. [Medline].

 
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