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G. Lo Giudice, A. Murgia, G. Opocher, S. Piermarocchi; Retinal capillary hemangioma in the von Hippel–Lindau disease. Natural history, clinical signs and therapeutic management of ocular manifestations. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):5210.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To assess the prevalence, frequency, ophthalmic features and clinical management of retinal capillary hemangioma (RCH) in patients affected by von Hippel–Lindau (VHL) disease. Methods: 118 families for 274 consecutive patients were observed at Department of Ophthalmology, University of Padova between 1999 and 2003. Detailed ophthalmologic, neurologic and radiologic examination; pedigree; mutation analyses; and collection of all relevant clinical data were performed to identify VHL. A fluorescein and ICG angiographic study was carried out in all patients with RCHs. Various treatment modalities have been performed about the ophthalmic findings of RCHs. Results: The median follow–up time was 4 years. Among 74 patients with clinically and genetically definite VHL disease we identified the RCHs (65) in 21 (13 men, 8 women). The mean age of ocular manifestations detection was 24.5 years. About 38% of cases showed bilateral involvement. Retinal location was in the superotemporal quadrant (39%) and in the midperipheral retina (61%). A multiple retinal distribution was observed in about 60% of cases. The angiographic study confirmed the diagnosis and the vascular nature of the tumors. Depending on the size, location and associated retinal findings, observation of RCHs was performed for 23 lesions (mean size < 1 mm); laser photocoagulation (argon green or yellow dye laser) and/or cryotherapy were applied to 40 RCHs (mean size 2.8 mm – 3.5 mm). Vitreo–retinal surgery and cryotherapy were applied for two large peripheral lesions associated to retinal detachment and macular hole. Conclusion: The RCH is the earliest manifestation of VHL disease. It is usually a circumscribed round retinal lesion with a multiple retinal distribution. The prevalence of VHL disease among patients with RCHs was 28.3 % (21 of 74). The frequency of occurrence of RCHs in our VHL disease population was 87%. Angiography is important for visualizing early vascular abnormality, confirming the diagnosis of RCH and can be an adjunct to treatment planning and follow–up. The decision to treat is determined by the size, location and associated retinal findings. RCH can be safely observed initially in selected cases. Laser photocoagulation and cryotherapy are the mainstays of treatment in most cases. Treatment of RCH can be challenging, especially when there are multiple lesions in both eyes.
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