Updated Guidelines for Retinal Surveillance in VHL Disease

New guidelines for retinal surveillance of patients with von Hippel-Lindau (VHL) disease have been generated, addressing questions about the timing and methodology of appropriate screening of these patients.

Anthony B. Daniels, MD, of Vanderbilt University Medical Center, presented an update on these guidelines at the American Academy of Ophthalmology (AAO) 2020 Virtual meeting.

“VHL is a multisystem disease in which malignant and benign tumors form in more than a dozen different organ systems,” Dr. Daniels said. “Guidelines have been developed in the past, but most were devised by panels with one individual for each organ system including one or not even one ophthalmologist.”

To correct this, two years ago, the VHL community created an international consortium, involving many experts in each field and tasked it with creating guidelines by reviewing existing evidence.

Dr. Daniels presented recommendations of ophthalmology subcommittee. Literature addressing seven important questions was evaluated by two different committee members and then all literature and guidelines were discussed by the committee. Guideline strength was stratified according to National Comprehensive Cancer Network (NCCN) categories of consensus. Because VHL is a rare disease, studies were largely observational in nature, Dr. Daniels noted.

There were three main recommendations—all classified as NCCN 2A. First, all patients with VHL should be screened with dilated ophthalmoscopy. Second, patients with retinal hemangioblastoma (RH) or acquired risk should have genetic testing as soon as possible. This includes patients with a single RH. Third, patients should be managed by clinicians with experience with this condition who feel comfortable treating it. Ideally, care would by multidisciplinary.

Several other recommendations were made based on the seven questions researched in the literature.

The first question was: At what age should surveillance begin? Is there an age at which surveillance can cease, especially if no RHs have been found previously? According to Dr. Daniels, screening should begin within six to 12 months of birth and continue throughout life.

The next questions were: During time of rapid growth, such as childhood, puberty, or adolescence, should surveillance occur more frequently? Should young children be screened with examination under anesthesia (EUA) or in the office? The panel determined based on literature that there is clearly a peak in RHs during ages 10 to 30 years.

“What is less clear is whether this necessitates twice yearly exams,” Dr. Daniels said. Children are less likely to report symptoms, and exam quality might not be as good in young child; therefore, the panel left it up to physician if exams should happen every six or 12 months. EUA can be considered in children in whom a detailed office exam is not possible.

The next question addressed whether surveillance should occur more frequently during pregnancy. According to the panel, evidence is conflicting, but they recommended that ocular screening be performed prior to a planned pregnancy and every six to 12 months.

The next question was: Does the addition of various imaging modalities, including fluorescein angiography and ultra-widefield imaging, improve screening for RHs? Dr. Daniels said that there is not a lot of evidence related to imaging, especially for newer modalities. In addition, this type of imaging is not widely available. These modalities are not a replacement for a careful dilated-pupil fundus examination.

Finally, the panel asked, should small asymptomatic RHs be treated or observed? “We recommend early treatment for these lesions,” Dr. Daniels said. Watching is not recommended.

This study was designated a “Best Poster” by AAO 2020 Virtual meeting organizers.