Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the 7-dehydrocholesterol reductase (DHCR7) gene, located on chromosomal region 11q13. This results in reduced cholesterol and increased 7-dehydrocholesterol (7DHC) levels. Accumulation of 7DHC in patients with SLOS can affect multiple organs and display a broad phenotypic expression. Ophthalmic abnormalities related to SLOS are variable but the most common is blepharoptosis. Over 50% of these patients present with self-injurious behavior, such as head banging, which can result in ocular complications and blindness.
Source: Journal of AAPOS - Category: Opthalmology Authors: Ashley L ópez-Cañizares, Hasenin Al-khersan, Maria Fernandez, Benjamin R. Lin, Lediana Goduni, Audina M. Berrocal Tags: Short Report Source Type: research