Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.
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Inclusion Criteria: * Clinical diagnosis of Smith-Lemli-Opitz Syndrome * Elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol * Must be able to travel to Children's Hospital Colorado annually * Must have insurance coverage for ERG/ABR studies Exclusion Criteria: * absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol * allergy to Antioxidant medication