What is the role of lab 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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Answer

Laboratory investigation usually is not required for infantile nystagmus.

Exceptions include workup for metabolic or infectious etiology in congenital cataracts, serology in suspected toxoplasmosis, toxicology in optic atrophy, endocrine assay for pituitary dysfunction in optic nerve hypoplasia, and others.

Children with opsoclonus who are otherwise well should undergo measurement of urine vanillylmandelic acid (and abdominal CT scan) to rule out neuroblastoma.


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