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

Dusica Babovic-Vuksanovic, S. M. Jalal, J. A. Garrity, D. M. Robertson, Noralane Morey Lindor

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

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

Fingerprint

Smith-Magenis Syndrome
Vision Disorders
Myopia
Cicatrix
Retinal Detachment
Lacquer
Hypertelorism
Exotropia
Retinal Degeneration
Strabismus
Macular Degeneration
Iris
Metaphase
Optic Nerve
Fluorescence In Situ Hybridization
Karyotype
Cataract
Anesthesia

Keywords

  • Macular degeneration
  • Myopia
  • Smith-Magenis syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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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.",
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AU - Garrity, J. A.

AU - Robertson, D. M.

AU - Lindor, Noralane Morey

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