Clinical Characterization of Retinal Capillary Hemangioblastomas in a Large Population of Patients with Von Hippel-Lindau Disease

Objective: To report the epidemiology and ocular phenotype of retinal capillary hemangioblastomas associated with von Hippel-Lindau (VHL) disease in a large cohort of patients and to correlate patient and ocular characteristics to visual morbidity in this population.

Design: Cross-sectional study.

Participants: In 220 unrelated pedigrees, 335 patients affected with VHL disease and retinal capillary hemangioblastomas (RCHs) in at least 1 eye.

Methods: Demographics of the patient population were recorded and the ocular phenotype of each patient was obtained with a comprehensive ocular examination.

Main Outcome Measures: The patient population was characterized and the ocular phenotype described in relationship to tumor location, number, and extent of retinal involvement. Correlations between patient demographics, ocular phenotype, and visual function were analyzed.

Results: We detected RCHs unilaterally in 42.1% and bilaterally in 57.9% of patients. No correlation was detected between the age, gender, or laterality of involvement. Of involved eyes, 86.6% had tumors that could be individually visualized; of these, tumors were commonly found in the peripheral retina (84.7%) only, and less commonly in the juxtapapillary area (15.3%). The tumor count in the periphery averaged 2.5+/-1.8 per eye, with 25.2% of eyes having >1 quadrant of retinal involvement. Of involved eyes, 13.4% were enucleated or prephthsical; approximately 1 in 5 patients had > or =1 eyes so affected. Severe visual impairment (visual acuity < or =20/160) in affected eyes were more likely to be associated with increasing age, the presence of juxtapapillary lesions, and an increasing number and extent of peripheral lesions.

Conclusions: This large cohort of VHL patients with RCHs has enabled a systematic and quantitative characterization of the demographics, ocular features, and visual function in VHL disease. Clinical correlations between the visual morbidity and ocular features of the disease were also performed, producing measures that can help clinicians to estimate visual prognoses better based on the ocular phenotype of the disease.