Work

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

Year: 2024

Type: article

Abstract: 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: 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: 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.

Source: American Journal of Ophthalmology Case Reports

DOI: 10.1016/j.ajoc.2024.102226

Authors: Lilly Tran, Julius T. Oatts, Maanasa Indaram

Institutions: University of California, Berkeley, University of California, San Francisco

Language: English

Topic: Ophthalmology and Eye Disorders

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,340