Ocular von Hippel-Lindau Disease – clinical characteristics and future directions

ABSTRACT

Introduction: von Hippel-Lindau (VHL) disease is an autosomal dominant, inherited multisystem cancer syndrome involving mutations in the VHL tumor suppressor gene. The hallmark lesion in ocular VHL disease is the retinal capillary hemangioblastoma (RCH), a benign vascular tumor capable of causing visual loss through exudative changes.

Areas covered: Combining epidemiological and clinical data with an analysis of recent treatment and outcomes literature, this review aims to update the clinician on research findings and upcoming potential therapies. We describe the clinical features of ocular VHL disease and the factors that can help prognose visual outcome in affected patients and provide a summary of current treatment modalities.

Expert commentary: We provide an update on the advent of genetic testing for pathogenic mutations in the VHL gene which has enabled earlier diagnoses and more detailed prognoses in affected patients, and have opened the way to future potential treatments aimed at the downstream molecular mediators of the disease.

KEYWORDS:

• Anti-angiogenic therapy
• von Hippel–Lindau disease
• retina capillary hemangioblastoma
• retina
• tumors
• genetic diseases
• VHL

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

Funding from the National Eye Institute (NEI) Intramural Research Program.