Multimodal Imaging in the Diagnosis of Exophytic Juxtapapillary Retinal Capillary Hemangioblastoma

Abstract Purpose Exophytic juxtapapillary retinal capillary hemangioblastoma (JRCH) can be difficult to diagnose. We explore the value of multimodal imaging to aid in the diagnosis. Design Retrospective case series. Methods Medical records and multimodal imaging studies were reviewed on all patients diagnosed with retinal capillary hemangioblastoma at Bascom Palmer Eye Institute between January 2013 and December 2019. Patients with exophytic lesions within 2 mm of the disc were included. One patient from Baylor College of Medicine was included. Patient demographics, referring diagnosis, history of von Hippel-Lindau (VHL) syndrome, initial and last visual acuity, and treatments were recorded. Fundus photography, autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), OCT, OCT angiography (OCTA), and B-scan images were reviewed. Results 12 patients were identified with exophytic JRCH. Mean age was 54 years (range 38-73 years). 5 had VHL syndrome. The most common referral diagnoses were choroidal neovascularization and neuroretinitis. Imaging features included nodular outer retinal thickening with shadowing and intra-/subretinal fluid on OCT, hypoautofluorescence on FAF, middle to outer retinal hypervascularity on OCTA, early hyperfluorescence with late leakage on FA, and lack of choroidal vascular lesion on ICGA. Treatments included photodynamic therapy (PDT) (6 patients), intravitreal anti-VEGF therapy (6 patients), argon laser photocoagulation (2 patients), intravitreal or sub-Tenon triamcinolone (3 patients), and observation (4 patients). Conclusions A key to accurate diagnosis of exophytic JRCH is its intraretinal location, typically involving the outer retinal layers, which results in a clinical appearance that is distinct from the more common and easily recognizable endophytic RCH. Multimodal imaging can aid in ruling out choroidal neovascularization and disc edema by demonstrating an absence of involvement of those structures.