- Author: Mark Ventocilla, OD, FAAO; Chief Editor: Edsel Ing, MD, FRCSC more...
Congenital nystagmus (also known as 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. Some other associated conditions include achromatopsia, Leber congenital amaurosis, anorexia, and ocular albinism.
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.
The precise incidence and prevalence of nystagmus is unknown.
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.
No reported racial predilection exists among patients with infantile nystagmus.
Infantile nystagmus affects males and females equally.
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.
Ehrt O. Infantile and acquired nystagmus in childhood. Eur J Paediatr Neurol. 2012 Nov. 16(6):567-72. [Medline].
Akman OE, Broomhead DS, Abadi RV, Clement RA. Components of the neural signal underlying congenital nystagmus. Exp Brain Res. 2012 Aug. 220(3-4):213-21. [Medline].
Birch EE, Wang J, Felius J, Stager DR Jr, Hertle RW. Fixation control and eye alignment in children treated for dense congenital or developmental cataracts. J AAPOS. 2012 Apr. 16(2):156-60. [Medline]. [Full Text].
Richards MD, Wong A. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management. Can J Ophthalmol. 2015 Dec. 50 (6):400-8. [Medline].
McLean R, Proudlock F, Thomas S, Degg C, Gottlob I. Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. Ann Neurol. 2007 Feb. 61(2):130-8. [Medline].
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. 2004 Dec. 8(6):539-48. [Medline].
American Academy of Ophthalmology. Neuro-Ophthalmology, Basic and Clinical Science Course. San Francisco, Calif: American Academy of Ophthalmology; 2011. Section 5.
Arnoldi KA, Tychsen L. Prevalence of intracranial lesions in children initially diagnosed with disconjugate nystagmus (spasmus nutans). J Pediatr Ophthalmol Strabismus. 1995 Sep-Oct. 32(5):296-301. [Medline].
Flickinger K, Tao JP. Ophthalmic Pearls: Neuro-Ophthalmology; How to Assess and Treat Infantile Nystagmus. Eye Net Magazine. 2013.
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 Apr-Jun. 21(2):63-9. [Medline].
Helveston EM, Ellis FD, Plager DA. Large recession of the horizontal recti for treatment of nystagmus. Ophthalmology. 1991 Aug. 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. 2000 Feb. 4(1):25-32. [Medline].
Lennerstrand G, Nordbo OA, Tian S, Eriksson-Derouet B, Ali T. Treatment of strabismus and nystagmus with botulinum toxin type A. An evaluation of effects and complications. Acta Ophthalmol Scand. 1998 Feb. 76(1):27-7. [Medline].
Lorenz B, Moore A, eds. Management of Congenital Nystagmus with and without Stabismus. Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics (Essentials in Ophthalmology). New York, NY: Springer; 2010. 153-71.
Miura K, Hertle RW, FitzGibbon EJ, Optican LM. Effects of tenotomy surgery on congenital nystagmus waveforms in adult patients. Part II. Dynamical systems analysis. Vision Res. 2003 Oct. 43(22):2357-62. [Medline].
Pratt-Johnson JA. Results of surgery to modify the null-zone position in congenital nystagmus. Can J Ophthalmol. 1991 Jun. 26(4):219-23. [Medline].
Reinecke RD. Costenbader Lecture. Idiopathic infantile nystagmus: diagnosis and treatment. J AAPOS. 1997 Jun. 1(2):67-82. [Medline].
Sarvananthan N, Proudlock FA, Choudhuri I, Dua H, Gottlob I. Pharmacologic treatment of congenital nystagmus. Arch Ophthalmol. 2006 Jun. 124(6):916-8. [Medline].
Sprunger DT, Wasserman BN, Stidham DB. The relationship between nystagmus and surgical outcome in congenital esotropia. J AAPOS. 2000 Feb. 4(1):21-4. [Medline].