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    Nystagmus diagnosis begins with thorough eye exam

    Condition usually a sign, not final diagnosis; genetic testing can help delve for more clues

    The diagnosis of congenital and infantile nystagmus requires a careful clinical workup and guided genetic testing when indicated, said Arlene V. Drack, MD.

    “It’s usually a sign, but not a diagnosis,” said Dr. Drack, the Ronald Keech Associate Professor for Pediatric Genetic Eye Disease Research, and director, electrophysiology, Wynn Institute for Vision Research, University of Iowa Department of Ophthalmology and Clinical Sciences, Iowa City. “There’s no magic genetic panel to diagnose nystagmus.”

    Congenital/infantile nystagmus has its onset within the first year of life, but patients may present at any age. Three broad categories for causes of congenital nystagmus include: neurologic, vision-related, and oculomotor.Click here to enlarge image. View an algorithm outlining the appropriate steps in the diagnosis of infantile nystagmus. (Graphic courtesy of Arlene V. Drack, MD)

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