title: Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another ophthalmologic complication.
abstract: We describe a 20-year-old man with Smith-Magenis syndrome and a 46,XY,del(17)(p11.2p11.2) 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 consequence of high myopia.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: D
authors.initials: D
authors.lastname: Babovic-Vuksanovic
authors.forename: S M
authors.initials: SM
authors.lastname: Jalal
authors.forename: J A
authors.initials: JA
authors.lastname: Garrity
authors.forename: D M
authors.initials: DM
authors.lastname: Robertson
authors.forename: N M
authors.initials: NM
authors.lastname: Lindor
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005128:Eye Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000473:pathology*; D008297:Male; D014786:Vision Disorders / Q000209:etiology*