AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Background

Congenital or infantile nystagmus is a clinical sign that may take many different forms. Involuntary, rhythmic eye movements are characteristic, as they are in acquired nystagmus. Waveform, amplitude, and frequency can vary with changes in focal distance, direction of gaze, and under monocular or binocular viewing conditions.

Oscillations are usually horizontal in direction but may be primarily vertical, torsional, or any combination of these three. Infantile nystagmus often is associated with other ocular conditions that impair visual acuity and occasionally can herald life-threatening conditions. Prompt assessment by an ophthalmologist with knowledge of infantile nystagmus to establish the need for and urgency of additional evaluation is extremely important.

Pathophysiology

Few patients are noted to have nystagmus onset at birth. The term infantile is probably more accurate than congenital and includes nystagmus that presents within the first 6 months of life. This disorder classically has been divided into afferent (sensory deficit) nystagmus, which is due to visual impairment, and efferent (idiopathic infantile) nystagmus, which is due to oculomotor abnormality, with most cases being sensory in origin. It is believed that the nystagmus may reflect a failure of early sensorimotor integration.

Data from eye movement recordings have conclusively shown that waveform alone is not a reliable method of distinguishing between these 2 entities. Therefore, it is essential that all infants with nystagmus be evaluated thoroughly for a primary sensory cause. In addition, it recently has been suggested that the following 3 additional subtypes of infantile nystagmus exist: (1) nystagmus associated with albinism, (2) latent and manifest latent nystagmus, and (3) spasmus nutans.

Frequency

United States

The precise incidence and prevalence of nystagmus is unknown.

Mortality/Morbidity

Visual morbidity associated with nystagmus relates most closely to the underlying disorder affecting the visual or ocular motor system, which is responsible for the fixation instability. Infantile nystagmus rarely is associated with a life-threatening disorder.

Race

No reported racial predilection exists among patients with infantile nystagmus.

Sex

Infantile nystagmus affects males and females equally.

Age

Most patients with infantile nystagmus present within the first several months of life.

• Nystagmus present at birth or prior to age 2 months is more likely to be idiopathic in nature or due to neurologic dysfunction. Sensory deficit nystagmus most commonly presents at age 2-3 months. Further investigation of the visual system is warranted in these cases. Nystagmus associated with albinism has characteristics similar to idiopathic nystagmus but usually is absent until after age 2 months.
• Nystagmus that presents after age 6 months is considered late infantile or childhood nystagmus and carries a graver prognosis. The exception is spasmus nutans, with onset in children aged 4 months to 3 years. Resolution of this condition usually occurs within a year of onset. Chiasmal glioma can present in an identical manner to spasmus nutans.
• Latent or manifest latent nystagmus often is discovered after the first few months of life, but it most often is associated with infantile strabismus and can be identified by its unique characteristics.

CLINICAL

Section 3 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

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.

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.

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.
• 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.

DIFFERENTIALS

Section 4 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

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

Section 5 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Lab 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.

TREATMENT

Section 6 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Medical Care

• Pharmacologically useful agents for patients with nystagmus are primarily GABA agonists or inhibitors of the excitatory neurotransmitter system. The only drug found to be of benefit in adult patients with a history of idiopathic infantile nystagmus is baclofen. This drug has not been approved for use in children. Baclofen has been effective in treating the periodic alternating nystagmus (PAN) subtype.
• Recent case reports have shown gabapentin to be beneficial in congenital nystagmus, with an improvement in foveation time and vision and a decrease in amplitude and frequency of the nystagmus.
• Contact lens wear has been noted to diminish infantile nystagmus, presumably by a trigeminal efferent pathway. This may also increase foveation time by avoiding induced spectacle distortion with ocular movement in patients with high degrees of ametropia.
• Alternative measures, such as biofeedback, acupuncture, or cutaneous head and neck stimulation, have been reported to decrease nystagmus in select (adult) patients with a history of infantile nystagmus.
• Refractive errors, even low plus, should be prescribed, as this has been shown to improve visual acuity. An optical system with high plus spectacles and high minus contact lenses has also been shown to improve visual acuity in some patients.

Surgical Care

• Retrobulbar or intramuscular injection of botulinum toxin (BOTOX®) has been demonstrated to abolish nystagmus temporarily, but patient satisfaction has been poor due to adverse effects, such as ptosis or diplopia, and the need for reinjection.
• Strabismus surgery is used in patients with certain forms of nystagmus with varying degrees of success.
• • Anderson or Kestenbaum procedures are used to move the eyes into the null zone to diminish an anomalous head position in the setting of idiopathic infantile nystagmus.
  • Recession or simple tenotomy of all 4 horizontal rectus muscles has been advocated; however, preliminary results have been mixed. A pilot study has been completed that showed some improvement, but the definitive study is still pending.
  • Surgery occasionally is used in the treatment of superior oblique myokymia.

Consultations

• Pediatric neurology consultation can be helpful in patients suspected of harboring CNS disease and in evaluating nystagmus for localizing a CNS lesion.
• Pediatric endocrinology consultation may be useful in patients with optic nerve hypoplasia to assist in evaluation of pituitary function.
• Pediatric metabolic disease specialists can offer assistance in patients with congenital cataracts or optic atrophy who are thought to have an underlying metabolic abnormality.
• Pediatric geneticists play an increasing role in the diagnosis and management of patients with nystagmus whose diagnosis is uncertain or who have dysmorphic features.
• Pediatric neuroradiologists are of considerable value in evaluating the infant brain for abnormalities uncovered with neuroimaging.

MEDICATION

Section 7 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

The only drugs used in the management of nystagmus are not useful in infants but are useful in adults with persistent nystagmus in which the motility disturbance itself is believed to cause visual impairment or other undesirable symptoms.

Drug Category: Anticonvulsants

Agents acting through gabapentin binding sites that may activate voltage-gated calcium channels may be useful in treating nystagmus.

Drug Category: Skeletal muscle relaxants

Agents used to treat reversible or intractable spasticity are helpful.

Drug Category: Neuromuscular Blocking Agents, Toxin

Agents that produce a state of muscle denervation are helpful.

FOLLOW-UP

Section 8 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Complications

• Strabismus surgery carries anesthesia risks, as well as the risk of vision loss. This consideration becomes more important when potential benefits are less certain.
• Alternative therapy is probably harmless at worst but should not delay diagnosis or treatment of an underlying disorder.

Prognosis

• Nystagmus intensity (frequency x amplitude) often improves spontaneously with increasing age but depends on etiology.

MISCELLANEOUS

Section 9 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• Patients with chiasmal gliomas can present with nystagmus identical to that seen in spasmus nutans. Consideration should be given to neuroimaging in these patients.
• Sensory deprivation nystagmus can be associated with CNS disease that extends beyond the retina or optic nerve. Lesions affecting the visual pathways or occipital cortex may only be discovered with neuroimaging.
• Diffuse CNS disease as well as that specific to the brainstem and other areas rarely causes nystagmus in infants. Consultation with a pediatric neurologist may be indicated, especially if nystagmus has atypical features.

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

• 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].
• 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].
• 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].
• Harris C, Berry D. A developmental model of infantile nystagmus. Semin Ophthalmol. 2006;21:63-9. [Medline].
• Helveston EM, Ellis FD, Plager DA. Large recession of the horizontal recti for treatment of nystagmus. Ophthalmology. Aug 1991;98(8):1302-5. [Medline].
• 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].
• 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].
• 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].
• 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].
• 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].
• 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].
• Reinecke RD. Costenbader Lecture. Idiopathic infantile nystagmus: diagnosis and treatment. J AAPOS. Jun 1997;1(2):67-82. [Medline].
• Sarvananthan N, Proudlock FA, Choudhuri I. Pharmacologic treatment of congenital nystagmus. Arch Ophthalmol. 2006;124:916-8. [Medline].
• 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].

Article Last Updated: Oct 13, 2006