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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



    Oculomotor nystagmus is a diagnosis of exclusion, Dr. Drack noted.

    “If there’s a normal OCT, ERG, and MRI, with no transillumination, there’s FRMD7 genetic testing,” she said. “It’s X-linked but also manifests in many females. The visual acuity and prognosis are good.”

    With gene therapy now possible for some genetic eye disorders causing nystagmus, ophthalmologists should aim for a true diagnosis and not lump all patients in the oculomotor category, she added.

    In a review of 202 charts done by a medical student, Morgan Bertsch, working with Dr. Drack and colleagues Michael Floyd, MD; Taylor Kehoe, BS; and Wanda Pfeifer, OC(C), they found that albinism was the most common final diagnosis (19% of congenital nystagmus patients), followed by Leber congenital amaurosis (LCA), non-LCA retinal dystrophies, and motor nystagmus.

    The ranking of motor nystagmus contrasts other research that has placed the condition at the top of diagnosis rankings, but Dr. Drack wondered if a complete workup was done in those cases.

    “A complete pediatric eye exam, including cycloplegic refraction, was the most helpful in narrowing it down to the site of the cause of nystagmus,” Dr. Drack said.

    Research also finds that MRI is commonly the first test done for nystagmus, but that it cannot diagnose any of the three most common causes of infantile nystagmus.


    Arlene V. Drack, MD

    E: [email protected]

    This article was adapted from Dr. Drack’s presentation at the 2016 meeting of the American Academy of Ophthalmology. Portions of this presentation are reported in Bertsch et al. Ophthalmic Genetics. 2017;38:22-33. Dr. Drack has no related financial interests related to this presentation; she has received research grant support from ProQr, Retrophin, and Spark Therapeutics, as well as the Chakraborty Foundation and the National Institutes of Health. Genetic testing for most study patients was provided by the Carver Nonprofit Genetic Testing Laboratory, University of Iowa.

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