Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease

ABSTRACT

Purpose

To develop guidelines for ocular surveillance and early intervention for individuals with von Hippel-Lindau (VHL) disease.

Design

Systematic review of the literature.

Participants

Expert panel of retina specialists and ocular oncologists.

Methods

A consortium of experts on clinical management of all-organ aspects of VHL disease was convened. Working groups with expertise in specific-organ features of VHL disease were tasked with development of evidence-based guidelines for each organ system. The Ophthalmology Subcommittee formulated questions for consideration and performed a systematic literature review. Evidence was graded for topic quality and relevance, strength of each recommendation, and guideline recommendations were developed.

Results

The quality of evidence was limited and no controlled clinical trial data was available. Consensus guidelines included: 1) Individuals with known or suspected VHL disease should undergo periodic ocular screening (evidence-type:III, evidence-strength:C, degree-of-consensus:2A). 2) Patients at risk for VHL disease, including first degree relatives of patients with known VHL disease, or any patient with single or multifocal retinal hemangioblastomas (RHs), should have genetic testing for pathologic VHL gene variants as part of an appropriate medical evaluation (III/C/2A). 3) Ocular screening should begin within 12 months after birth and continue throughout life (III/C/2A). 4) Ocular screening should occur approximately every 6-12 months until age 30 years, and then at least yearly after age 30 years (III/C-D/2A). 5) Ocular screening should be performed prior to a planned pregnancy, and every 6-12 months during pregnancy (IV/D/2A). 6) Ultra-widefield color-fundus photography may be helpful in certain circumstances to monitor RHs, and ultra-widefield fluorescein angiography may be helpful in certain circumstances to detect small RHs (IV/D/2A). 7) Patients should be managed, whenever possible, by those with subspecialty training and/or with experience with VHL disease / RHs, and ideally within the context of a multidisciplinary center capable of providing multi-organ surveillance and access to genetic testing (IV/D/2A). 8) Extramacular/extrapapillary RHs should be treated promptly (III/C/2A).

Conclusions

Based on available evidence from observational studies, there was broad agreement for a strategy of lifelong surveillance and early treatment for ocular VHL disease. These guidelines were endorsed by the VHL Alliance and the International Society of Ocular Oncology, and approved by the AAO Board of Trustees.