What is the pathophysiology of congenital nystagmus?

Updated: Oct 08, 2019
  • Author: Mark Ventocilla, OD, FAAO; Chief Editor: Edsel Ing, MD, MPH, FRCSC  more...
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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. Although visual sensory defects are common in individuals with infantile nystagmus, a sensory defect is not a prerequisite for the development of nystagmus.

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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