Early cataracts in both eyes

Early cataracts in both eyes with no obvious cause is a major clue for cerebrotendinous xanthomatosis (CTX)

Snowflake cataracts may appear in children between the ages of four and eighteen

Not an actual patient.

Cataracts usually develop much later in life and are part of the normal aging process. Symptoms of cataracts are blurry vision, glare, and poor night vision. Certain conditions or medications can also increase one’s risk for developing cataracts at earlier ages.

In CTX, most people experienced cataracts in both eyes while they were still young.

  • Cataracts in both eyes were often found between the ages of 4 and 18 years of age in people with CTX.
  • These cataracts have been described as having “fleck-like deposits” or called snowflake cataracts.
  • Surgery can remove cataracts, improving vision afterward, but won’t prevent other symptoms from happening.

Early cataracts in both eyes are a clue that it might be CTX.

Child or teenager with history of frequent diarrhea and eyesight deterioration

In CTX, cataracts are caused by a buildup of cholestanol in the lens of the eye. It is possible that cataracts in people with CTX may have a distinct appearance. In one family with 3 siblings diagnosed with CTX, the cataracts in their eyes had a distinct “fleck” or snowflake-like appearance. These siblings also experienced frequent diarrhea, a symptom found in about half of diagnosed people with CTX. People with early cataracts in both eyes and a history of frequent diarrhea or neurological problems should be tested for CTX immediately.

Child or teenager with constant diarrhea, cataracts in both eyes, and neurological problems

Some examples of how CTX can appear with cataracts and a combination of other symptoms can include:

  • Early cataracts in both eyes and attention deficit hyperactivity disorder
  • Early cataracts in both eyes and behavioral problems
  • Early cataracts in both eyes and personality disorder
  • Early cataracts in both eyes and seizures with constant diarrhea

Because these are just examples, it’s important to pay attention to any neurological problems as they can vary.

Cataracts found in both eyes during childhood or teenage years, even without other symptoms, are a sign to get tested.