1. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome
- Author
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Edward R. Jaeger, Brenda M. Finucane, Charles I. Scott, Michael B. Kurtz, and Martha Weinstein
- Subjects
Adult ,Male ,medicine.medical_specialty ,Refractive error ,Adolescent ,Eye Diseases ,Eye disease ,Ocular Pathology ,Biology ,Brushfield spots ,chemistry.chemical_compound ,Ophthalmology ,Myopia ,medicine ,Humans ,Child ,Strabismus ,Genetics (clinical) ,Genetics ,Retinal Detachment ,Retinal detachment ,Retinal ,Syndrome ,Middle Aged ,medicine.disease ,Smith–Magenis syndrome ,chemistry ,Karyotyping ,Female ,medicine.symptom ,Self-Injurious Behavior ,Gene Deletion ,Chromosomes, Human, Pair 17 - 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.
- Published
- 1993