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...
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Elsevier
2024-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993624002366 |
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| author | Lilly Tran Julius T. Oatts Maanasa Indaram |
| author_facet | Lilly Tran Julius T. Oatts Maanasa Indaram |
| author_sort | Lilly Tran |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d6b93934bde1438cb4d7be67cf4eefbc |
| institution | Kabale University |
| issn | 2451-9936 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj-art-d6b93934bde1438cb4d7be67cf4eefbc2024-12-18T08:50:52ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362024-12-0136102226Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndromeLilly Tran0Julius T. Oatts1Maanasa Indaram2University of California, Berkeley, USAUniversity of California, San Francisco, Department of Ophthalmology, USAUniversity of California, San Francisco, Department of Ophthalmology, USA; Corresponding author. 490 Illinois Street, Floor 5 San Francisco, CA 94143-4081, USA.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.http://www.sciencedirect.com/science/article/pii/S2451993624002366Duane retraction syndromeRubinstein-Taybi syndromeStrabismus |
| spellingShingle | Lilly Tran Julius T. Oatts Maanasa Indaram Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome American Journal of Ophthalmology Case Reports Duane retraction syndrome Rubinstein-Taybi syndrome Strabismus |
| title | Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome |
| title_full | Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome |
| title_fullStr | Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome |
| title_full_unstemmed | Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome |
| title_short | Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome |
| title_sort | duane retraction syndrome associated with ep300 variant of rubinstein taybi syndrome |
| topic | Duane retraction syndrome Rubinstein-Taybi syndrome Strabismus |
| url | http://www.sciencedirect.com/science/article/pii/S2451993624002366 |
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