Abstract
Idiopathic superior oblique muscle palsy presents, as quantitative phenotypes, vertical deviation and cyclodeviation in eye alignment on clinical testing, and superior oblique muscle hypoplasia on imaging. We determined ARIX and PHOX2B polymorphisms as genotypes, and analyzed phenotype-phenotype and genotype-phenotype correlations in 37 patients with idiopathic superior oblique muscle palsy. Vertical deviations were measured at upright position of the head and head tilt for 30° to either side, and angles of objective excyclodeviations were determined by image analysis on fundus photographs. Cross-sectional areas of the superior oblique muscle near the eye globe-optic nerve junction were measured by image analysis on coronal sections of magnetic resonance imaging to calculate the paretic-side/normal-side ratios. Among the phenotypes, the increase in vertical deviations elicited by head tilt to the paretic side, the decrease in vertical deviations elicited by head tilt to the normal side and the difference of angles of objective excyclodeviations between the paretic side and normal side were significantly correlated inversely with the paretic-side/normal-side ratios of the cross-sectional areas of the muscle (r=-0.43 with P=0.0084, r=0.34 with P=0.038, and r=-0.43 with P=0.009, respectively, n=37, Pearson's correlation test). Fifteen patients with ARIX and/or PHOX2B polymorphisms had significantly greater paretic-side/normal-side ratios of the muscle compared with 20 patients without the polymorphisms (P=0.017, n=35, Mann-Whitney U-test). The patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles.
| Original language | English |
|---|---|
| Pages (from-to) | 122-129 |
| Number of pages | 8 |
| Journal | Journal of Human Genetics |
| Volume | 57 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2012 |
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Keywords
- ARIX (PHOX2A)
- congenital or idiopathic superior oblique muscle palsy
- cyclotorsion (cyclodeviation)
- genotype-phenotype
- magnetic resonance imaging
- muscle hypoplasia
- PHOX2B
- quantitative phenotype
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy. / Ohkubo, Sayuri Imai; Matsuo, Toshihiko; Hasebe, Kayoko; Shira, Yoshie Hirai; Itoshima, Emi; Ohtsuki, Hiroshi.
In: Journal of Human Genetics, Vol. 57, No. 2, 02.2012, p. 122-129.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy
AU - Ohkubo, Sayuri Imai
AU - Matsuo, Toshihiko
AU - Hasebe, Kayoko
AU - Shira, Yoshie Hirai
AU - Itoshima, Emi
AU - Ohtsuki, Hiroshi
PY - 2012/2
Y1 - 2012/2
N2 - Idiopathic superior oblique muscle palsy presents, as quantitative phenotypes, vertical deviation and cyclodeviation in eye alignment on clinical testing, and superior oblique muscle hypoplasia on imaging. We determined ARIX and PHOX2B polymorphisms as genotypes, and analyzed phenotype-phenotype and genotype-phenotype correlations in 37 patients with idiopathic superior oblique muscle palsy. Vertical deviations were measured at upright position of the head and head tilt for 30° to either side, and angles of objective excyclodeviations were determined by image analysis on fundus photographs. Cross-sectional areas of the superior oblique muscle near the eye globe-optic nerve junction were measured by image analysis on coronal sections of magnetic resonance imaging to calculate the paretic-side/normal-side ratios. Among the phenotypes, the increase in vertical deviations elicited by head tilt to the paretic side, the decrease in vertical deviations elicited by head tilt to the normal side and the difference of angles of objective excyclodeviations between the paretic side and normal side were significantly correlated inversely with the paretic-side/normal-side ratios of the cross-sectional areas of the muscle (r=-0.43 with P=0.0084, r=0.34 with P=0.038, and r=-0.43 with P=0.009, respectively, n=37, Pearson's correlation test). Fifteen patients with ARIX and/or PHOX2B polymorphisms had significantly greater paretic-side/normal-side ratios of the muscle compared with 20 patients without the polymorphisms (P=0.017, n=35, Mann-Whitney U-test). The patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles.
AB - Idiopathic superior oblique muscle palsy presents, as quantitative phenotypes, vertical deviation and cyclodeviation in eye alignment on clinical testing, and superior oblique muscle hypoplasia on imaging. We determined ARIX and PHOX2B polymorphisms as genotypes, and analyzed phenotype-phenotype and genotype-phenotype correlations in 37 patients with idiopathic superior oblique muscle palsy. Vertical deviations were measured at upright position of the head and head tilt for 30° to either side, and angles of objective excyclodeviations were determined by image analysis on fundus photographs. Cross-sectional areas of the superior oblique muscle near the eye globe-optic nerve junction were measured by image analysis on coronal sections of magnetic resonance imaging to calculate the paretic-side/normal-side ratios. Among the phenotypes, the increase in vertical deviations elicited by head tilt to the paretic side, the decrease in vertical deviations elicited by head tilt to the normal side and the difference of angles of objective excyclodeviations between the paretic side and normal side were significantly correlated inversely with the paretic-side/normal-side ratios of the cross-sectional areas of the muscle (r=-0.43 with P=0.0084, r=0.34 with P=0.038, and r=-0.43 with P=0.009, respectively, n=37, Pearson's correlation test). Fifteen patients with ARIX and/or PHOX2B polymorphisms had significantly greater paretic-side/normal-side ratios of the muscle compared with 20 patients without the polymorphisms (P=0.017, n=35, Mann-Whitney U-test). The patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles.
KW - ARIX (PHOX2A)
KW - congenital or idiopathic superior oblique muscle palsy
KW - cyclotorsion (cyclodeviation)
KW - genotype-phenotype
KW - magnetic resonance imaging
KW - muscle hypoplasia
KW - PHOX2B
KW - quantitative phenotype
UR - http://www.scopus.com/inward/record.url?scp=84857724469&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84857724469&partnerID=8YFLogxK
U2 - 10.1038/jhg.2011.138
DO - 10.1038/jhg.2011.138
M3 - Article
VL - 57
SP - 122
EP - 129
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 2
ER -