Visual impairment due to macular disciform scars in a 20-year-old man withSmith-Magenis syndrome: Another ophthalmologic complication

We describe a 20-year-old man with Smith-Magenis syndrome and a 46,XY,del(1 7)-(p11.2p11.2) karyotype. The interstitial deletion was confirmed by metap hase analysis using the fluorescent in situ hybridization probe (D17S29) fo r the Smith-Magenis region. The patient had hypertelorism, exotropia, and h igh myopia. Examination under anesthesia showed a lacquer crack near the ri ght macula and a disciform scar of the left macula, Six months later, the p atient presented with subacute visual loss. Examination demonstrated end-st age macula degeneration with bilateral disciform scars. There was no eviden ce of retinal detachment. Prior reports of Smith-Magenis syndrome mention t elecanthus, ptosis, strabismus, iris anomalies, cataract, microcornea, opti c nerve hypoplasia, myopia, retinal detachment, and lattice retinal degener ation. Bilateral macular degeneration has not been reported previously, and it may be an additional ophthalmologic manifestation of Smith-Magenis synd rome, either as a primary manifestation or as a direct consequence of high myopia. Am. J. Med. Genet. 80:373-376, 1998, (C) 1998 Wiley-Liss, Inc.