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单卵双胞胎与多卵双胞胎及其他多胞胎中斜视表型的一致性。

Concordance of strabismic phenotypes in monozygotic versus multizygotic twins and other multiple births.

作者信息

Matsuo Toshihiko, Hayashi Mizue, Fujiwara Hirotake, Yamane Takashi, Ohtsuki Hiroshi

机构信息

Department of Ophthalmology, Okayama University Medical School, Okayama City, Japan.

出版信息

Jpn J Ophthalmol. 2002 Jan-Feb;46(1):59-64. doi: 10.1016/s0021-5155(01)00465-8.

Abstract

PURPOSE

The concordance of strabismic phenotypes was examined in monozygotic versus multizygotic twins and other multiple births to study the role of genetic background in different types of commitant strabismus.

METHODS

Medical charts of 45 consecutive pairs of twins (16 monozygotic and 18 dizygotic twins, and 11 with unknown zygosity), 3 sets of triplets (one monozygotic and 2 trizygotic triplets), and one set of quadruzygotic quadruplets examined at 6 institutions between 1973 and 1999 were reviewed retrospectively. The concordance was defined as both or all members having either esotropia or exotropia in common.

RESULTS

The concordance of strabismic phenotypes was noted in 33 of 49 pairs or sets (67.3%): 14 of 17 monozygotic twins or triplets (82.4%), 10 of 21 multizygotic twins, triplets, or quadruplets (47.6%), and 9 of 11 twins with unknown zygosity (81.8%). The concordance rate was significantly higher in monozygosity than in multizygosity (P =.043, Fisher exact probability test). The predominant concordant phenotypes in monozygosity were accommodative esotropia and intermittent exotropia.

CONCLUSION

A high concordance rate of strabismic phenotypes, predominantly of accommodative esotropia and intermittent exotropia in monozygosity, suggests the genetic background for these types of strabismus.

摘要

目的

研究单卵双胞胎与多卵双胞胎及其他多胞胎中斜视表型的一致性,以探讨遗传背景在不同类型共同性斜视中的作用。

方法

回顾性分析1973年至1999年间在6家机构检查的45对连续双胞胎(16对单卵双胞胎、18对双卵双胞胎和11对合子类型不明的双胞胎)、3组三胞胎(1组单卵三胞胎和2组三卵三胞胎)以及1组四卵四胞胎的病历。一致性定义为两个或所有成员都有共同的内斜视或外斜视。

结果

49对或组中的33对(67.3%)存在斜视表型一致性:17对单卵双胞胎或三胞胎中的14对(82.4%),21对多卵双胞胎、三胞胎或四胞胎中的10对(47.6%),以及11对合子类型不明的双胞胎中的9对(81.8%)。单卵双胞胎的一致性率显著高于多卵双胞胎(P = 0.043,Fisher精确概率检验)。单卵双胞胎中主要的一致性表型为调节性内斜视和间歇性外斜视。

结论

斜视表型的高一致性率,主要是单卵双胞胎中的调节性内斜视和间歇性外斜视,提示这些类型斜视存在遗传背景。

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