Von Hippel–Lindau Disease
The retinal lesions seen in von Hippel–Lindau disease (VHL; angiomatosis of the retina and cerebellum) and originally described by von Hippel are capillary hemangioblastomas. These lesions usually become visible ophthalmoscopically between ages 10 and 35 years, with an average age at onset of 25 years. Retinal capillary hemangioblastomas are found in up to 85% of patients with the VHL mutation. Multiple tumors are present in the same eye in about one-third of cases and bilaterally in as many as one-half of cases. Tumors typically occur in the peripheral fundus, but lesions adjacent to the optic disc have been described. Prominent extraocular features of VHL are summarized in Table 28-5.
The hallmark of the mature tumor is a pair of markedly dilated vessels (artery and vein) running between the lesion and the optic disc, indicating significant arteriovenous shunting (Fig 28-16). Characteristic paired or twin retinal vessels of normal caliber may be present before the tumor becomes visible.
Table 28-5 Extraocular Features in von Hippel–Lindau Disease
Figure 28-16 Retinal angiomatosis, left eye, in a patient with von Hippel–Lindau disease.
Histologically, retinal capillary hemangioblastomas consist of relatively well-formed capillaries; however, fluorescein angiography shows that these vessels are leaky. Transudation of fluid into the subretinal space causes lipid accumulation, retinal detachment, and consequent vision loss.
Retinal capillary hemangioblastomas can be effectively treated with cryotherapy or laser photocoagulation in two-thirds of cases or more, particularly when the lesions are still small. Antiangiogenic therapy has also shown potential. Early diagnosis increases the likelihood of successful treatment. The ocular lesions of VHL are asymptomatic prior to retinal detachment. Therefore, children at risk for the disease should undergo periodic ophthalmologic evaluation beginning at approximately age 5 years.
Early diagnosis of systemic tumors can significantly reduce morbidity and mortality. Molecular genetic testing has been suggested for patients with early-onset (<30 years) cerebellar hemangioblastoma, early-onset retinal capillary hemangioblastoma, or familial clear cell renal carcinoma.
Maher ER, Neumann HP, Richard S. Von Hippel–Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617–623.
Toy BC, Agrón E, Nigam D, Chew EY, Wong WT. Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel–Lindau disease. Ophthalmology. 2012;119(12):2622–2630.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.