Duane retraction syndrome associated with
Publication/Presentation Date
12-1-2024
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: A 2-year-old male with a history of Type II RTS associated with a de novo variant of
CONCLUSIONS: The association of DRS with RTS is rare with few prior reported cases. We present another case of DRS coupled with
Volume
36
First Page
102226
Last Page
102226
ISSN
2451-9936
Published In/Presented At
Tran, L., Oatts, J. T., & Indaram, M. (2024). Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome. American journal of ophthalmology case reports, 36, 102226. https://doi.org/10.1016/j.ajoc.2024.102226
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
39697674
Department(s)
Department of Pediatrics
Document Type
Article