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 language | English (US) |
|---|---|
| Pages (from-to) | 373-376 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 80 |
| Issue number | 4 |
| DOIs | |
| State | Published - 1998 |
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Keywords
- Macular degeneration
- Myopia
- Smith-Magenis syndrome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome : Another ophthalmologic complication. / Babovic-Vuksanovic, Dusica; Jalal, S. M.; Garrity, J. A.; Robertson, D. M.; Lindor, Noralane Morey.
In: American Journal of Medical Genetics, Vol. 80, No. 4, 1998, p. 373-376.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome
T2 - Another ophthalmologic complication
AU - Babovic-Vuksanovic, Dusica
AU - Jalal, S. M.
AU - Garrity, J. A.
AU - Robertson, D. M.
AU - Lindor, Noralane Morey
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - Macular degeneration
KW - Myopia
KW - Smith-Magenis syndrome
UR - http://www.scopus.com/inward/record.url?scp=0031795910&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031795910&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19981204)80:4<373::AID-AJMG13>3.0.CO;2-M
DO - 10.1002/(SICI)1096-8628(19981204)80:4<373::AID-AJMG13>3.0.CO;2-M
M3 - Article
C2 - 9856566
AN - SCOPUS:0031795910
VL - 80
SP - 373
EP - 376
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 0148-7299
IS - 4
ER -