Search

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.

Purpose: To report 2 cases of enlarged foveal avascular zone (FAZ) on optical coherence angiography (OCTA) imaging in pediatric patients with cutis marmorata telangiectatica congenita (CMTC). Observations: A 10-week-old female and a 3-year-old male diagnosed with CMTC presented for retinal examination. Both had peripheral avascularity on fluorescein angiography (FA) and enlargement of the FAZ on OCTA in both eyes. Conclusions and Importance: Pediatric patients with CMTC should undergo ocular evaluation with not only FA, but also OCTA to more robustly evaluate the affected retina in this rare disease.

Purpose: To report 2 cases of atypically located, non-nasal colobomas in the pediatric population. Observations: A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with tractional membranes upon examination under anesthesia and imaging. A 9-year-old female with a history of bilateral sensorineural hearing loss and left mild hydronephrosis presented with a temporal chorioretinal coloboma associated with retinal detachment. Conclusions and importance: Very few cases of atypically located, non-nasal pediatric colobomas have been reported, and they lack a clear cause or mechanism of formation. Continued documentation of their occurrence and research into their formation at a molecular and embryological level are warranted to better understand their pathogenesis.