1. Ovoid foveal hyperreflective lesions as a sign of familial adenomatous polyposis: A case series and review
- Author
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Serena Shah, Francisco Lopez-Font, Davina Malek, Jason Fan, Natasha Ferreira Santos da Cruz, Catherin Negron, Basil K. Williams, Jr., and Audina M. Berrocal
- Subjects
Familial adenomatous polyposis ,Optical coherence tomography angiography ,Retinal astrocytic hamartoma ,Ophthalmology ,RE1-994 - Abstract
Purpose: To report 2 cases of presumed retinal hamartoma (RH) in pediatric patients with genetically-confirmed familial adenomatous polyposis (FAP), both evaluated by optical coherence tomography (OCT) and one evaluated with optical coherence tomography angiography (OCTA). Observations: A six-year-old girl presented with occasional blurry vision in the left eye. OCT showed a foveal hyperreflective lesion with disruption of photoreceptors and retinal pigment epithelium (RPE). A nine-year-old female with a past medical history of FAP presented with progressively decreasing vision and floaters in the right eye for the past 6 months. OCT showed a well-demarcated hyperreflective ovoid lesion in the fovea. OCTA revealed no flow signal within the lesion, as well as a second smaller hyperreflective lesion temporal to the fovea. Both patients were diagnosed with presumed retinal hamartoma in the setting of FAP. Conclusions and Importance: Presumed RH can occur in genetically-confirmed, pediatric FAP. On OCTA imaging, these lesions show no intrinsic vascularity. Evaluation with OCT and knowledge of foveal changes in these patients can help identify underlying systemic disease.
- Published
- 2024
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