Tran Lilly, Oatts Julius T, Indaram Maanasa
University of California, Berkeley, USA.
University of California, San Francisco, Department of Ophthalmology, USA.
Am J Ophthalmol Case Rep. 2024 Nov 28;36:102226. doi: 10.1016/j.ajoc.2024.102226. eCollection 2024 Dec.
This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic abnormality in RTS may sporadically impact ocular motor nerves.
A 2-year-old male with a history of Type II RTS associated with a de novo variant of presented for a comprehensive eye examination, which revealed a left esotropia of 20 prism diopters (PD) in primary gaze with a significant left face turn, mild globe retraction on adduction in the left eye, and abduction limitation consistent with Type 1 DRS in the left eye. He underwent two strabismus surgeries and postoperatively had a satisfactory sensorimotor outcome.
The association of DRS with RTS is rare with few prior reported cases. We present another case of DRS coupled with variant Type II RTS, though this is the first with associated manifest strabismus and compensatory torticollis requiring strabismus surgery, contributing to the phenotypic variability seen in this condition.
本病例报告描述了一名患有杜安眼球后退综合征（DRS）且经基因确诊为II型鲁宾斯坦-泰比综合征（RTS）的儿童。目的是更好地了解RTS的眼部表现，并进一步探讨RTS中的神经发育基因异常可能偶尔影响眼球运动神经的可能性。
一名2岁男性，有II型RTS病史，伴有新发变异，前来进行全面眼科检查，结果显示在第一眼位时左眼有20棱镜度（PD）的内斜视，伴有明显的向左面转，左眼内收时轻度眼球后退，以及与左眼1型DRS一致的外展受限。他接受了两次斜视手术，术后感觉运动效果良好。
DRS与RTS的关联很少见，之前报道的病例不多。我们报告了另一例DRS合并变异型II型RTS的病例，尽管这是首例伴有明显斜视和需要斜视手术的代偿性斜颈的病例，这也导致了这种情况下所见的表型变异性。
