title: Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome.
abstract: We present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17p11.2, otherwise known as the Smith-Magenis syndrome (SMS). The most common abnormalities noted were strabismus, Brushfield spots, high myopia, and retinal detachments. We have previously reported high myopia and retinal detachments in 6 patients with SMS (Finucane et al.: Am J Hum Genet 49:262A, 1991). We present additional details on these individuals, as well as findings in 4 newly reported patients. Ocular pathology appears to be very common in SMS, significantly contributing to disability in people with this syndrome. The combination of high myopia, self-injurious head-banging, aggression, and hyperactivity among these patients makes them particularly susceptible to retinal detachments. Detailed ophthalmologic assessment should be included in the clinical work-up and monitoring of all patients with SMS resulting from deletion 17p11.2.
authors: Medical Department, Elwyn, Inc., PA 19063.
authors: B M
authors: BM
authors: Finucane
authors: E R
authors: ER
authors: Jaeger
authors: M B
authors: MB
authors: Kurtz
authors: M
authors: M
authors: Weinstein
authors: C I
authors: CI
authors: Scott
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002886:Chromosomes, Human, Pair 17; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics; D012163:Retinal Detachment / Q000235:genetics; D016728:Self-Injurious Behavior / Q000235:genetics; D013285:Strabismus / Q000235:genetics; D013577:Syndrome