Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome

Purpose: 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.

Observations: A 2-year-old male with a history of Type II RTS associated with a de novo variant of EP300 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.

Conclusions: The association of DRS with RTS is rare with few prior reported cases. We present another case of DRS coupled with EP300 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.