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 language||English (US)|
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|State||Published - 1998|
- Macular degeneration
- Smith-magenis syndrome
ASJC Scopus subject areas