Dr. Robert Steiner, a clinical professor at the University of Wisconsin School of Medicine and Public Health, is making a compelling case for the urgent need to implement newborn screening for cerebrotendinous xanthomatosis (CTX), a rare but treatable genetic disorder. During a recent discussion with Ophthalmology 360, Dr. Steiner highlighted the importance of early diagnosis and treatment to prevent the severe complications associated with CTX, which can range from early-onset cataracts to more debilitating issues like difficulties in walking, talking, and even early dementia.
CTX is a condition caused by a genetic mutation, and while it’s relatively rare, its impact can be devastating if left untreated. “CTX can be diagnosed either biochemically or through genetic testing,” Dr. Steiner explained. While biochemical testing is available, it can sometimes yield borderline results, making genetic testing a crucial tool for confirmation. Fortunately, genetic testing for CTX is now widely accessible, offering a reliable method to detect the condition early on.
One of the key points Dr. Steiner emphasized is the availability of an effective treatment for CTX—chenodeoxycholic acid (CDCA). Originally developed for gallstone treatment, CDCA has been repurposed for CTX with remarkable success, despite its off-label use for this specific condition. “It’s a very safe, very effective medication,” he noted, adding that another bile acid, cholic acid, may also be useful, particularly in young infants.
However, Dr. Steiner stressed that treatment is only part of the battle; early detection is essential. A common early sign of CTX is the presence of bilateral cataracts in children, adolescents, or young adults. While cataracts in older adults are often related to aging, those that appear in younger individuals could be a red flag for CTX. Dr. Steiner urged ophthalmologists to consider CTX as a potential diagnosis when they encounter these cases, advocating for collaboration with genetic counselors or clinical geneticists to facilitate testing.
The most powerful tool in the fight against CTX, according to Dr. Steiner, could be newborn screening. He strongly advocates for its widespread implementation, pointing out that effective screening methods already exist and have been proven successful. By screening all newborns, the severe complications of CTX—many of which are preventable with early intervention—could be avoided, giving affected individuals the chance to lead normal, healthy lives.
As the medical community continues to push for broader awareness and testing, the hope is that conditions like CTX will no longer go undiagnosed, ensuring that those at risk receive the life-saving treatment they need from the earliest possible moment.
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