Khan Arif O, Abu-Amero Khaled
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville.
J AAPOS. 2014 Aug;18(4):389-91. doi: 10.1016/j.jaapos.2014.02.011. Epub 2014 Jun 24.
Children affected by infantile esotropia can cross-fixate to see object to the contralateral side with the adducted eye; when doing so they need not abduct the eye ipsilateral to the object and thus can appear to have abduction defects. Less commonly, an esotropic child is truly unable to abduct and cross-fixates to allow side gaze. We report the case of a 10-month-old girl with cross-fixation and inability to abduct who was genetically proven to have horizontal gaze palsy with progressive scoliosis (recessive ROBO3 mutations). Clinical assessment of her elder brother, previously diagnosed with bilateral type 3 Duane retraction syndrome, revealed that he was actually affected by the same disease. We highlight this rare ocular motility disorder as part of the differential diagnosis of early childhood esotropia with cross-fixation and inability to abduct and how examination of an affected sibling can facilitate proper diagnosis of genetic eye disease.
患有婴儿型内斜视的儿童可以通过交叉注视，用内收眼看到对侧的物体；此时，他们无需外展与物体同侧的眼睛，因此可能表现出外展缺陷。不太常见的情况是，患有内斜视的儿童确实无法外展，只能通过交叉注视来实现侧方注视。我们报告了一例10个月大的女孩，她有交叉注视且无法外展，经基因检测证实患有伴有进行性脊柱侧弯的水平注视麻痹（隐性ROBO3突变）。对她的哥哥进行临床评估，其哥哥之前被诊断为双侧3型杜安眼球后退综合征，结果发现他实际上也患有同一种疾病。我们强调这种罕见的眼球运动障碍是儿童早期内斜视伴交叉注视和无法外展的鉴别诊断的一部分，以及对患病同胞的检查如何有助于正确诊断遗传性眼病。
