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.