Involuntary oscillation of the eyes that may be either motor or sensory in etiology.
Idiopathic motor infantile/congenital nystagmus: 1 in 2,850 (1).
Approximately 0.5%, including those associated with strabismus and other diseases.
• Low vision
– Strabismus (2)
– Developmental delay
– Down, Asperger (2 reported cases), and other syndromes
– Neurological anomalies
– Family history of nystagmus
• Isolated nystagmus: Autosomal dominant (loci 6p12, 7p11, 13q31–33, 18q22.3–23), autosomal recessive (6p12), and X-linked (locus Xp11.3-11.4; gene FRMD7 at Xq26–q27; gene GPR143 at Xp22.3) (2)
• Genetics of underlying syndrome would otherwise apply.
• Low vision results in inability to use visual information to maintain stable fixation.
• Neuronal mechanism of motor nystagmus is a field active research. Currently, there is no unified theory.
• Isolated congenital/infantile motor nystagmus may or may not have genetic etiology.
• Acquired nystagmus
– Sensory: Vision loss before age 2 years
– Central nervous system anomalies
– Degenerative brain disorders, stroke, tumor
COMMONLY ASSOCIATED CONDITIONS
• Low vision due to pre-chiasmal pathology (e.g., retinal dystrophy, optic nerve hypoplasia, untreated cataract)
• Central nervous system anomalies or other disorders
• Developmental delay
• Multiple syndromes (e.g., Cornelia de Lange syndrome) and chromosomal aberrations (e.g., trisomy 21)
• Age of onset. Congenital/infantile nystagmus is usually noticed by parents between 8–12 weeks old and before 6 months of age.
– Photophobia (e.g., achromatopsia, cone dystrophy, albinism, macular hypoplasia)
– Poor night vision (e.g., Congenital stationary night blindness [CSNB])
– Better night than day vision (e.g., achromatopsia)
• History of neurologic signs, brain injury, brain tumor
• Family history
• Medication or illicit drug use
• Systemic and neurology evaluation for anomalies, developmental delay, and hypotonia
• Complete ophthalmologic evaluation to look for
– Ocular anomalies and media opacities
– Strabismus (e.g., from poor vision in sensory nystagmus or with infantile esotropia in nystagmus blockage syndrome)
• Evaluation for head positions, null point (may shift over time, e.g., periodic alternating nystagmus)
• Amplitude, frequency, and direction in all gazes
– Type of nystagmus: Pendular, jerk
– Direction (vertical horizontal, see saw, opsoclonus)
– Changes in character with convergence or monocular viewing
– Increase beneath closed eyelids – vestibular or brainstem pathology
DIAGNOSTIC TESTS & INTERPRETATION
• Not required unless systemic disorder which warrants laboratory tests
• If opsoclonus, do urine catecholamines.
– Brain MRI in cases of
– Vertical and asymmetric nystagmus
– Nystagmus with optic nerve hypoplasia
Unusual patterns of nystagmus (e.g., see saw, opsoclonus – if so, also scan neck and thorax and possibly abdomen for paraspinal neuroblastoma)
Follow-up & special considerations
For progressive neurologic disease
• Eye movement recording (3)
• Electrophysiology studies for nystagmus associated with decreased vision without identifiable ocular pathology or suspect CSNB
– 3-lead visual evoked potentials (VEP) help to establish the diagnosis of albinism
• Congenital/infantile nystagmus
• Nystagmus due to vision deprivation before age 2 years
– Ocular anterior segment pathologies: Corneal opacity, cataract, glaucoma
– Retinal diseases
– Optic nerve diseases/congenital anomalies
• Latent nystagmus
– Usually associated with strabismus
– Affected by monocular occlusion and reverse direction when the covered eye is changed
• Spasmus nutans
– Onset during the first year of life in otherwise healthy children
– Transient high frequency often asymmetric nystagmus with head nodding and abnormal head position
– Chiasmal, suprachiasmal, or third ventricle gliomas may mimic spasmus nutans.
• Gaze-evoked nystagmus
• Vestibular diseases
• Nystagmus due to brain, brainstem, and cerebellum diseases
– Tumor: Glioma, neuroblastoma
– Demyelination: Multiple sclerosis
• Toxins and drugs induced oscillations of eyes: Alcohol, lithium, antiseizure medications
• Medical treatment is not usually included in treatment for congenital nystagmus.
• Baclofen and 5-hydroxytryptophan have been tried with limited effect.
• Correct refractive error. Contact lens may damp the nystagmus in some patients.
• Obtain ocular alignment by refractive correction, prisms, or surgery – may eliminate manifest latent component.
• Treat amblyopia.
• Photochromic lenses and sun glasses for cone disorders and macular hypoplasia
– Correct face turn.
– Stimulate fusional convergence: Base out prisms for both eyes.
Issues for Referral
• Genetic counseling for cases with family history, albinism, or other genetic causes
• Low vision
• Neurology referral as needed
• ENT referral in cases of vestibular nystagmus
COMPLEMENTARY & ALTERNATIVE THERAPIES
• Biofeedback (4)
• To correct face turn: Transfer the null position into primary gaze – Kestenbaum-Andersen procedure.
• To dampen the movement: Large recession of all 4 horizontal recti
• Artificial divergence surgery to produce a large exophoria that allows the patient to use fusional convergence to dampen the nystagmus (5)
• As needed for monitoring vision, head position, and amblyopia treatment
• As needed for associated ocular, central nervous system, or systemic disease
– Low vision
• Scheduled ophthalmology evaluation for monitoring and treatment of coexisting ocular condition, strabismus, and amblyopia
School performance and development.
• Genetic counseling where indicated
• Low vision intervention
• Patient support network – American Nystagmus Network, Inc. (ANN) www.nystagmus.org/
• Underlying disease specific support groups
• Visual acuity varies and depends on etiology
• Most forms of nystagmus, including congenital/infantile isolated motor nystagmus, dampen with age but rarely resolve.
• Anomalous head positions usually worsen as demand increases with age.
• Visual blur
– Only when acquired later in childhood does oscillopsia occur
1. Stang HJ. Developmental disabilities associated with congenital nystagmus. J Dev Behav Pediatr 1991;12(5):322–323.
2. Fingert JH, Roos B, Eyestone ME, et al. Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. Ophthalmic Genet 2010;31(2):77–80.
3. Hertle RW, Maldanado VK, Maybodi M, et al. Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life. Br J Ophthalmol 2002;86(6):670–675.
4. Sharma P, Tandon R, Kumar S, et al. Reduction of congenital nystagmus amplitude with auditory biofeedback. J AAPOS 2000;4(5):287–290.
5. Spielmann A. Clinical rationale for manifest congenital nystagmus surgery. J AAPOS 2000;4(2):67–74.