A 9-year-old child with cataracts in both eyes

Presenting symptom

  • A 9-year-old child was referred to an eye doctor for decreased vision over several months
  • The eye doctor found a cataract in each eye

Questions and tests found additional problems

  • Child had suffered from diarrhea
  • Parents had also been informed that their child had a nonverbal learning disorder
  • Blood tests were suggestive of CTX

Early referral and the right care stopped CTX from getting worse

  • Cataract surgery fully corrected the child's vision
  • Patient was referred to specialists at Oregon Health and Sciences University and received the right care
  • 6 years later, patient had no new CTX symptoms
Unusual or unexplained symptoms similar to what this 9-year-old child experienced, especially when seen together, may signal early suspicion of CTX.

Know how to spot CTX

CTX can cause many symptoms, some occurring at the same time.

Learn more