Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis ]me: Another ophthalmologic complication

Dusica Babovic-Vuksanovic, Syed M. Jalal, James A. Garrity, Dennis M. Robertson, Noralane M. Lindor

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

We describe a 20-year-old man with SmithMagenis syndrome and a 46,XY,del(17)(pll.2pll.2) karyotype. The interstitial deletion was confirmed by metaphase analysis using the fluorescent in situ hybridization probe (D17S29) for the Smith-Magenis region. The patient had hypertelorism, exotropia, and high myopia. Examination under anesthesia showed a lacquer crack near the right macula and a disciform scar of the left macula. Six months later, the patient presented with subacute visual loss. Examination demonstrated end-stage macula degeneration with bilateral disciform scars. There was no evidence of retinal detachment. Prior reports of Smith-Magenis syndrome mention telecanthus, ptosis, strabismus, iris anomalies, cataract, microcornea, optic nerve hypoplasia, myopia, retinal detachment, and lattice retinal degeneration. Bilateral macular degeneration has not been reported previously, and it may be an additional ophthalmologic manifestation of Smith-Magenis syndrome, either as a primary manifestation or as a direct conse-quence of high myopia.

Original languageEnglish (US)
Pages (from-to)373-376
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume80
Issue number4
StatePublished - Dec 1 1998

Keywords

  • Macular degeneration
  • Myopia
  • Smith-magenis syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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