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Bilateral juvenile cataracts may be early sign of lipid storage disease
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Surgeons should be aware when treating bilateral juvenile cataracts that those cataracts could be the first signs of a debilitating lipid storage disease, cerebrotendinous xanthomatosis.
“If someone operates on those cataracts and does not try to figure out if the condition is related to cerebrotendinous xanthomatosis, the patient may have severe progression that develops mentally and neurologically 30 to 40 years later,” OSN Pediatrics/Strabismus Board Member Roberto Warman, MD, said. “By then, there is no treatment.”
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease that affects three to five people per 100,000, Warman said.
The disease is caused by mutations in the CYP27A1 gene, which prevents the enzyme sterol 27-hydroxylase from breaking down cholesterol to form chenodeoxycholic acid, a bile acid.
“If you don’t have [the enzyme], the cholesterol gets converted into something called cholestanol. The cholestanol is the problem. It accumulates in the gastrointestinal track, the lens of the eye and the nervous system,” Warman said. “When the cholestanol accumulates in the lens of the eye, the cataracts advance relatively fast to decrease vision.”
Identifying the disease
One of the earliest signs of CTX is bilateral juvenile cataracts.
“The biggest way that ophthalmologists can help identify the disease is to keep in mind that there are not that many causes for bilateral acquired juvenile cataracts,” OSN Pediatrics/Strabismus Board Member Erin D. Stahl, MD, said. “When you have [a patient with] bilateral juvenile acquired cataracts, then that is a red flag that something unusual is going on because there are not very many conditions that cause those. The problem is that later in life, usually in the teens or 20s, patients go on to start having the disease significantly affect mental function and neurologic function. By that point, treatment doesn’t reverse symptoms.”
When an ophthalmologist sees a patient with bilateral juvenile cataracts, further investigation is warranted, according to Warman.
“If ophthalmologists see bilateral juvenile cataracts, and they are not due to chronic steroids, diabetes, infection or inflammation, they should ask about chronic diarrhea in infancy. People tend to remember that because it is obvious and it lasts for months,” Warman said.
“[This disease] can be identified early with the onset of diarrhea, but more likely with the onset of the cataracts. Patients can be treated, and all the neurological sequelae can be avoided,” Stahl said.
Management
For patients with bilateral juvenile cataracts and a history of infantile chronic diarrhea, the next step in management is to remove the cataracts and then check the patient’s cholestanol level.
“For those kids who do develop bilateral acquired cataracts later in childhood, they should have their cholestanol checked. It’s a relatively inexpensive test, around $100. It is a blood or urine test. If they have a high level of cholestanol, then they can go on for further testing for CTX,” Stahl said.
Some testing centers in the U.S. include Oregon Health & Science University in Portland, Oregon; Kennedy Krieger Institute in Baltimore; and Emory Genetics Laboratory in Decatur, Georgia, Warman said.
“Once a cataract surgeon learns that their patient has CTX and the patient has started medication, the neurological condition is 100% preventable,” Warman said. “We are really just trying to make it known. ” – Nhu Te