CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS and SURGICAL MANAGEMENT
Issued Date
2022-05-01
Resource Type
ISSN
19351089
eISSN
19371578
Scopus ID
2-s2.0-85129779107
Pubmed ID
32150115
Journal Title
Retinal Cases and Brief Reports
Volume
16
Issue
3
Start Page
259
End Page
262
Rights Holder(s)
SCOPUS
Bibliographic Citation
Retinal Cases and Brief Reports Vol.16 No.3 (2022) , 259-262
Suggested Citation
Tipsuriyaporn B., Ammar M.J., Yonekawa Y. CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS and SURGICAL MANAGEMENT. Retinal Cases and Brief Reports Vol.16 No.3 (2022) , 259-262. 262. doi:10.1097/ICB.0000000000000990 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/85915
Title
CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS and SURGICAL MANAGEMENT
Author(s)
Author's Affiliation
Other Contributor(s)
Abstract
Purpose:We report a patient with CTNNB1-associated vitreoretinopathy. We discuss imaging findings and surgical management.Methods:Case report.Results:An 18-month-old girl with microcephaly, failure to thrive, developmental delay, and chronic rhinitis presented with bilateral central and peripheral tractional retinal detachments and an anomalous retinal vasculature. She underwent multimodal imaging and genetic testing, and we discuss successful surgical management.Conclusion:CTNNB1 mutations can cause a vision-threatening vitreoretinopathy. We recommend CTNNB1 to be considered as part of the workup of patients presenting with familial exudative vitreoretinopathy-like clinical findings, especially if there are systemic manifestations.