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Congenital Nystagmus

  • Author: Mark Ventocilla, OD, FAAO; Chief Editor: Edsel Ing, MD, FRCSC  more...
 
Updated: Mar 24, 2016
 

Background

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.[1] Some other associated conditions include achromatopsia, Leber congenital amaurosis, anorexia, and ocular albinism.

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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.

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Epidemiology

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.

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Contributor Information and Disclosures
Author

Mark Ventocilla, OD, FAAO Adjunct Clinical Professor, Michigan College of Optometry; Editor, American Optometric Association Ocular Surface Society Newsletter; Chief Executive Officer, Elder Eye Care Group, PLC; Chief Executive Officer, Mark Ventocilla, OD, Inc; President, California Eye Wear, Oakwood Optical

Mark Ventocilla, OD, FAAO is a member of the following medical societies: American Academy of Optometry, American Optometric Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

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

Disclosure: Nothing to disclose.

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

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, Sigma Xi, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Chief Editor

Edsel Ing, MD, FRCSC Associate Professor, Department of Ophthalmology and Vision Sciences, University of Toronto Faculty of Medicine; Consulting Staff, Hospital for Sick Children and Sunnybrook Hospital

Edsel Ing, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Society of Ophthalmic Plastic and Reconstructive Surgery, Royal College of Physicians and Surgeons of Canada, Canadian Ophthalmological Society, North American Neuro-Ophthalmology Society, Canadian Society of Oculoplastic Surgery, European Society of Ophthalmic Plastic and Reconstructive Surgery, Canadian Medical Association, Ontario Medical Association, Statistical Society of Canada, Chinese Canadian Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

Michael J Bartiss, OD, MD Medical Director, Ophthalmology, Family Eye Care of the Carolinas and Surgery Center of Pinehurst

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

Disclosure: Nothing to disclose.

Acknowledgements

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.

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.

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