What is the role of genetic testing in the diagnosis of congenital nystagmus?

Updated: Oct 08, 2019
  • Author: Mark Ventocilla, OD, FAAO; Chief Editor: Edsel Ing, MD, MPH, FRCSC  more...
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Genetic testing is poised to provide increasing diagnostic insight for patients with nystagmus and many other ocular disorders. However, because of its low diagnostic yield, routine FRMD7 gene mutation screening is not recommended in isolated cases of idiopathic infantile nystagmus syndrome. Nonetheless, it may be considered in patients with a pedigree that indicates X-linked inheritance. [3]

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