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CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT
Boontip Tipsuriyaporn1, Michael J Ammar2, Yoshihiro Yonekawa2
1Department of Ophthalmology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand ; and.
Insights
CTNNB1 mutations can cause severe vision loss due to vitreoretinopathy. Early genetic testing is recommended for children with familial exudative vitreoretinopathy-like symptoms and systemic issues.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- CTNNB1 mutations are increasingly recognized as a cause of genetic disorders.
- Vitreoretinopathy can lead to significant vision impairment.
Observation:
- An 18-month-old girl presented with microcephaly, failure to thrive, developmental delay, and chronic rhinitis.
- She exhibited bilateral tractional retinal detachments and anomalous retinal vasculature.
Findings:
- Multimodal imaging revealed characteristic retinal findings.
- Genetic testing confirmed a pathogenic CTNNB1 mutation.
- Successful surgical management was performed.
Implications:
- CTNNB1 mutations should be considered in the differential diagnosis of familial exudative vitreoretinopathy.
- Genetic screening is crucial for patients with unexplained vitreoretinopathy and systemic manifestations.
- This case highlights the link between CTNNB1 and vision-threatening ocular conditions.
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.
