Garnica-Hayashi Rosa E, Vargas-Ortega Jessica, Zenteno Juan Carlos
Department of Strabismus, Instituto de Oftalmología, Fundación Conde de Valenciana, Mexico City, Mexico.
Strabismus. 2007 Apr-Jun;15(2):113-7. doi: 10.1080/09273970701431418.
Case report of a 15-year-old girl presenting with a left-sided Duane's retraction syndrome (DURS) in combination with ipsilateral retinal coloboma and contralateral microphthalmia. Abduction limitation as well as narrowing of the palpebral fissure and globe retraction during attempted adduction (type I DURS) was demonstrated in the left eye. Additionally, a retinal coloboma was observed in the nasal inferior quadrant of the left eye. No other somatic or developmental abnormalities were observed and karyotypic analysis was normal. This is the first case of non-syndromic unilateral DURS associated with a contralateral major ocular malformation. This unusual clinical combination probably arose from the embryonic action of an eye-specific disruptor.
一名15岁女孩的病例报告,该女孩患有左侧杜安退缩综合征(DURS),同时伴有同侧视网膜缺损和对侧小眼畸形。左眼表现出外展受限以及试图内收时睑裂变窄和眼球后退(I型DURS)。此外,在左眼鼻下象限观察到视网膜缺损。未观察到其他躯体或发育异常,核型分析正常。这是首例非综合征性单侧DURS合并对侧主要眼部畸形的病例。这种不寻常的临床组合可能源于一种眼特异性干扰因子的胚胎作用。