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.

Keywords: Retinal capillary hemangioma; Retinopathy of prematurity; von Hippel-Lindau disease.

Fig. 1

Images at presentation. a Color fundus photograph of the right optic disc shows temporal dragging of the disc vessels with fine telangiectatic vessels temporal to the disc, with several large-caliber vessels diving into an opaque thickening of the retina, suggestive of a sessile angioma. Mid (b) and late (c) ICG angiograms show progressive hypercyanescence temporal to the disc, consistent with filling of the juxtapapillary angioma. The lesion does not involve the fovea as it is dragged temporally. ICG, indocyanine green.

Fig. 2

Color fundus photographs 16 years after presentation. In the right eye, the fovea is dragged temporally, and there is chorioretinal atrophy at the site of the treated juxtapapillary angioma. There are numerous laser scars temporally at the site of the treated retinal tear and peripheral retinal angiomas. a There is an active-appearing angioma in the inferior mid-periphery (white arrow). In the left eye, the vessels and fovea are dragged temporally. b There is extensive peripapillary atrophy and atrophy at the sites of the previously treated peripheral angiomas.

Fig. 3

Pseudo-color wide-field fundus photographs (age: 61 years). a There is chorioretinal atrophy at the sites of previously treated retinal angiomas and the retinal tear in the right eye. b Mid-phase fluorescein angiography of the right eye shows staining of some of the larger, previously treated angiomas within laser scars but no untreated angiomas. c There is chorioretinal atrophy at the sites of previously treated angiomas in the left eye. d Late-phase fluorescein angiography of the left eye shows staining of some of the treated angiomas within the laser scars of previously treated angiomas but no active angiomas.

Fig. 4

OCT (age: 62 years). a Infrared image of the macula of the right eye shows atrophy at the sites of previously treated angiomas. b OCT of the macula of the right eye shows temporal dragging of the fovea which is spared from atrophy in the area of prior laser treatment temporal to the optic disc. c Infrared image of the macula of the left eye shows temporal dragging of the macula and atrophy at the site of a previously treated angioma. d OCT of the macula of the left eye shows temporal dragging of the fovea and retinal thickening from an epiretinal membrane. OCT, optical coherence tomography.