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  • Imaging can identify atypical hemangioblastomas in von Hippel-Lindau disease

    Retina/Vitreous

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    Review of: Novel manifestation of retinal hemangioblastomas detected by OCT angiography in von Hippel-Lindau disease

    Takahashi A, Muraoka Y, Koyasu S, et al. Ophthalmology, July 2023

    Some retinal hemangioblastomas (RHs) associated with von Hippel-Lindau (VHL) disease have features that are atypical of the usual type of RHs seen in this patient population.

    Study design

    This Japanese single-center, prospective, observational study evaluated 57 consecutive patients with VHL disease using multimodal imaging. Two RH phenotypes were identified—nodular and flat—and were characterized by both fundoscopic appearance and features seen on fluorescein angiography, OCT, and OCT angiography (OCTA) imaging.

    Outcomes

    Fifty-eight eyes of 37 patients had RHs. Typical nodular RH lesions were identified in 54 eyes. These lesions were described as reddish, well-circumscribed tumors protruding into the vitreous with feeder vessels, located in the peripheral retina and peripapillary area. OCT localized the lesions to mainly above the retinal nerve fiber layer (RNFL) and abundant superficial layer blood flow was seen on OCTA. Flat or atypical RH lesions were identified in 7 eyes; on fundoscopy, they appeared as faint vascular anomalies or hemorrhage in the inner retina. OCTA demonstrated abundant blood flow in the lesions and OCT localized them to primarily between the RNFL and the ganglion cell layer. The majority of flat RH lesions were found in the macula, while no nodular lesions were located in the macula.

    Limitations

    This study described and characterized 2 RH phenotypes using multimodal imaging. It did not report long-term follow-up to evaluate the natural history and visual significance of these lesions.

    Clinical significance

    The fundoscopic characteristics of typical nodular RH lesions and their association with VHL disease are well known. The flat atypical RH lesions described in this study as difficult to detect clinically are not well known. In this study, these atypical lesions were best identified using OCTA imaging. OCTA of the macula and peripapillary area is technically feasible and could be a valuable adjunct imaging modality to screen for VHL-related eye disease, which is particularly important given VHL's potential life-threatening systemic associations.

    Financial Disclosures: Dr. Jagger Koerner discloses no financial relationships.