Link between teen cataracts and rare genetic disease highlighted
Dr. Ernst Schaefer, a prominent figure in lipidology and a professor of medicine at Tufts University School of Medicine, emphasized the critical importance of early diagnosis and treatment of cerebrotendinous xanthomatosis (CTX) during a recent discussion with Ophthalmology 360. CTX, a rare lipid storage disease, often presents with early-onset cataracts, which can be a key indicator for timely intervention.
Dr. Schaefer discussed the significant impact of delayed diagnosis, noting that many patients are not diagnosed until their 30s, by which time irreversible neurological damage may have occurred. Early identification of CTX, particularly in adolescents presenting with premature cataracts, is vital as it allows for the prevention of disease progression through appropriate treatment.
Dr. Schaefer highlighted the importance of genetic testing in diagnosing CTX, specifically by sequencing the CYP27A1 gene. The disease stems from a genetic defect that impedes the formation of bile acids from cholesterol, leading to the accumulation of cholestanol and other sterols in the bloodstream. He recommended that ophthalmologists and other clinicians consider CTX in patients, particularly teenagers, who develop cataracts unusually early in life.
In addition to cataracts, Dr. Schaefer pointed out that around 80% of CTX patients exhibit unusual cholesterol deposits, or xanthomas, on their tendons despite having normal blood cholesterol levels. This characteristic can help differentiate CTX from other lipid disorders, which typically involve elevated cholesterol levels.
Dr. Schaefer also discussed the treatment of CTX, which involves administering chenodeoxycholic acid (CDCA). This bile acid therapy prevents the build-up of harmful byproducts in the body, stabilizing the disease and significantly improving patient outcomes. Early diagnosis and treatment are crucial to avoid severe neurological complications that can lead to disability and premature death.
For clinicians who suspect CTX, Dr. Schaefer recommended sending serum or urine samples for testing at Oregon Health Sciences University, where such tests are available free of charge. Genetic testing can also be conducted through Prevention Genetics, aiding in the timely diagnosis and management of this rare but treatable condition.
For a more in-depth exploration of CTX and its ophthalmic implications, view the full discussion on Ophthalmology 360.
