CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT
| Autor: | Yoshihiro Yonekawa, Boontip Tipsuriyaporn, Michael J Ammar |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Microcephaly Familial Exudative Vitreoretinopathies MEDLINE 01 natural sciences 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine medicine Humans 0101 mathematics beta Catenin Genetic testing Multimodal imaging medicine.diagnostic_test business.industry 010102 general mathematics Chronic rhinitis Retinal Detachment Infant Retinal Vessels Retinal General Medicine medicine.disease Ophthalmology chemistry Catenin Failure to thrive 030221 ophthalmology & optometry Female medicine.symptom business |
| Zdroj: | RETINAL Cases & Brief Reports. 16:259-262 |
| ISSN: | 1935-1089 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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