News — Researchers at Ann & Robert H. Lurie Children’s Hospital of Chicago are working to improve the lives of children with pediatric cataracts through genetic testing and research.
Genetic testing can help identify the underlying cause of a child's cataracts, leading to more accurate diagnosis and treatment.
Sometimes cataracts in children can be a sign of a serious health condition, such as cerebrotendinous xanthomatosis, or CTX. CTX is a rare condition that starts in infancy but can be difficult to diagnose. Without treatment, it leads to neurological issues such as seizures, abnormal movements, and cognitive problems. However, with early diagnosis, treatment is available to prevent severe symptoms.
Lurie Children’s Divisions of Ophthalmology and Genetics, Genomics, and Metabolism are launching a multidisciplinary clinic to offer comprehensive care for children with cataracts, which will give families the opportunity to identify underlying diseases such as CTX faster. With early treatment, children with CTX can thrive, avoiding the neurologic regression that can come with the disease.
Pediatric ophthalmologist Dr. Jennifer Rossen, an expert in pediatric cataracts, will lead the clinic. Earlier this year, she received a $75,000 grant from the 2024 GeNe Award for her research on Gene and Variant Curation for Pediatric Cataracts. Dr. Rossen is also the chair of a newly forming National Institutes of Health (NIH) ClinGen Variant Curation Expert Panel (VCEP) for clinically actionable pediatric cataracts to develop a standard approach for interpretation of variants identified in CYP27A1, the gene associated with CTX. This work will improve genetic testing for CTX. Other genes associated with other diseases will be evaluated in the future.
For more information about the clinic or to make a referral or appointment, contact clinic coordinator Melissa Soto by calling 312-227-6722.
RSS