Hemangioblastoma Location Key to Accurate Diagnosis

Investigators consider multimodal imaging to diagnose exophytic juxtapapillary retinal capillary hemangioblastoma.

Multimodal imaging can help with differential diagnosis in exophytic juxtapapillary retinal capillary hemangioblastoma according to a study published in the American Journal of Ophthalmology. The key, according to the research is in the condition’s intraretinal location, which often involves outer retinal layers, giving it “a clinical appearance that is distinct from the more common and easily recognizable endophytic retinal capillary hemangioblastomas.” 

The retrospective case reviewed medical records and multimodal imaging studies, including fundus photography, autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), optical coherence tomography (OCT), OCT angiography (OCT-A), and B-scan images. Patients diagnosed with retinal capillary hemangioblastoma (and exophytic lesions within 2 mm of the disc) at Bascom Palmer Eye Institute between January 2013 and December 2019, and 1 patient from Baylor College of Medicine, were included. Investigators also collected information on patient demographics, referring diagnosis, history of von Hippel-Lindau (VHL) syndrome, initial and last visual acuity, and treatments.

A total of 12 patients were identified with exophytic juxtapapillary retinal capillary hemangioblastoma; 5 had VHL syndrome. Choroidal neovascularization and neuroretinitis were the most common referral diagnoses. Researchers found “nodular outer retinal thickening with shadowing and intra-/subretinal fluid on OCT, hypoautofluorescence on FAF, middle to outer retinal hypervascularity on OCT-A, early hyperfluorescence with late leakage on FA, and lack of choroidal vascular lesion on ICGA” as imaging features.

Treatments used included the following: photodynamic therapy in 6 patients, intravitreal anti-vascular endothelial growth factor (VEGF) therapy in 6 patients, argon laser photocoagulation in 2 patients, intravitreal or sub-tenon triamcinolone in 3 patients, and observation in 4 patients.

“Diagnosis of exophytic juxtapapillary retinal capillary hemangioblastoma can be challenging, particularly in patients without a history of VHL syndrome. These lesions can be indistinct on clinical examination, sometimes manifesting with only a subtle bulge at the disc margin or lipid exudation. When these lesions present as an orange or red deep retinal lesion, they can be mistaken for peripapillary choroidal neovascularization and/or a small subretinal hemorrhage. When they obscure the disc margin, they can be misdiagnosed as optic disc edema or optic neuritis,” investigators report.

“In the current study, we demonstrate the utility of multimodal imaging in distinguishing exophytic [juxtapapillary retinal capillary hemangioblastoma from … other entities,” the study says.


Russell JF, Villegas VM, Schwartz SG, et al. Multimodal imaging in the diagnosis of exophytic juxtapapillary retinal capillary hemangioblastoma. Am J Ophthalmol. Published online January 11, 2021. doi:10.1016/j.ajo.2021.01.002