Retinal Capillary Hemangioma Leading to a Diagnosis of von Hippel-Lindau Disease in a Patient with Retinopathy of Prematurity

Abstract

Von Hippel-Lindau (VHL) disease is a rare inherited cancer syndrome that results in the development of tumor formation in multiple systems. In the eye, retinal capillary hemangioma (RCH) can lead to severe vision loss. Retinopathy of prematurity (ROP) is likewise a rare disease in which abnormal retinal vasculature develops in premature infants. Hallmarks of this disease include temporal dragging of the macula and retinal vessels. Here, we describe a 36-year-old myopic woman with a known history of ROP who presented with a vitreous hemorrhage in the right eye. As the vitreous hemorrhage cleared, she was found to have not only a retinal tear but also a juxtapapillary RCH that lead to a diagnosis of VHL disease in the patient, her mother, and her aunt. This is the first reported case of an individual with concomitant ROP and RCH from VHL. Her vision was remarkably well preserved over 25 years of follow-up despite having a moderate-sized laser scar temporal to the disc from treating the juxtapapillary RCH, likely due to the temporal macular dragging from her underlying ROP. This case highlights the importance of being aware that rare diagnoses can co-exist, and one must be aware of the protean manifestations of VHL.