eMedicine Specialties > Ophthalmology > Extraocular Muscles

Nystagmus, Congenital: Differential Diagnoses & Workup

Author: Theodore Curtis, MD, Assistant Professor, Department of Ophthalmology, University of Colorado; Consulting Staff, Rocky Mountain Lions Eye Institute
Coauthor(s): David T Wheeler, MD, Associate Professor, Departments of Ophthalmology and Pediatrics, Oregon Health & Science University
Contributor Information and Disclosures

Updated: Oct 13, 2006

Differential Diagnoses

Anisocoria

Other Problems to Be Considered

Ocular oscillations that mimic nystagmus include the following:

Ocular flutter
Opsoclonus
Ocular bobbing
Ocular dysmetria
Superior oblique myokymia
Square wave jerks
Voluntary nystagmus
Convergence-retraction nystagmus associated with the dorsal midbrain syndrome

Workup

Laboratory Studies

  • Laboratory investigation usually is not required for infantile nystagmus.
  • Exceptions include workup for metabolic or infectious etiology in congenital cataracts, serology in suspected toxoplasmosis, toxicology in optic atrophy, endocrine assay for pituitary dysfunction in optic nerve hypoplasia, and others.
  • Children with opsoclonus who are otherwise well should undergo measurement of urine vanillylmandelic acid (and abdominal CT scan) to rule out neuroblastoma.

Imaging Studies

  • Infantile nystagmus may indicate underlying neurologic disease. Neuroimaging is indicated when a space-occupying lesion or brain malformation is suspected, as in cortical visual impairment or ocular motor disturbance.
  • Patients presenting with spasmus nutans should undergo MRI to rule out glioma if evidence suggests an anterior visual pathway or hypothalamic disease.
  • Patients with sporadic (as opposed to familial) aniridia are at risk of developing Wilms tumor and should undergo periodic renal ultrasound. The need for this may be modified with increasing availability of genetic testing.
  • Patients with optic nerve hypoplasia are at increased risk for other midline CNS abnormalities, such as absence of the corpus callosum or pituitary ectopia; MRI may be indicated to assess the need for endocrine evaluation.
  • Ocular ultrasonography is indicated in nystagmus patients with persistent hyperplastic primary vitreous (PHPV), cataract, Peters anomaly, and other disorders in which the ocular fundus cannot be visualized. It also is useful to assess the status of the retina in advanced retinopathy of prematurity, familial exudative vitreoretinopathy, and perinatal trauma.

Other Tests

  • Electroretinography is an essential component of evaluation in early acquired nystagmus in which intrinsic retinal disease is suspected, such as Leber congenital amaurosis, achromatopsia, congenital stationary night blindness, and other disorders.
  • Visual-evoked response (VER) has limited use in the evaluation of infantile nystagmus due to the inability of infants to perform pattern VER. Flash VER provides little insight into visual pathway dysfunction but may be of some value in documenting abnormal chiasmal crossing in albinism.
  • Genetic testing is poised to provide increasing diagnostic insight for patients with nystagmus and many other ocular disorders.
  • Eye movement recordings can be done to measure the amplitude and frequency of nystagmus, but they are mainly used for research purposes.

Procedures

  • Examination under anesthesia may be required to adequately evaluate ocular structures in the workup of infantile nystagmus.
  • Sedation may be required to perform ocular ultrasonography, electroretinography, VER, and neuroimaging.

More on Nystagmus, Congenital

Overview: Nystagmus, Congenital
Differential Diagnoses & Workup: Nystagmus, Congenital
Treatment & Medication: Nystagmus, Congenital
Follow-up: Nystagmus, Congenital
References
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References

  1. 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].

  2. 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].

  3. 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].

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

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

  6. 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].

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

  8. 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].

  9. 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].

  10. 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].

  11. 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].

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

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

  14. 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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Further Reading

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Keywords

congenital nystagmus, infantile nystagmus

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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.

Medical Editor

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, American College of Surgeons, and North Carolina Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

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.

Managing Editor

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.

CME Editor

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.

 
 
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