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Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome

✍ Scribed by Finucane, Brenda M. ;Jaeger, Edward R. ;Kurtz, Michael B. ;Weinstein, Martha ;Scott, Charles I.

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 667 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450409

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✦ Synopsis

We present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17~11.2, 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 49262A, 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-bang ing, 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 17~11.2.

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