Ocular Manifestations of von Hippel-Lindau Disease

Abstract

In this review article, we aimed to analyze the available data on the ocular manifestations of von Hippel-Lindau (VHL) disease. In this disease, the VHL protein becomes inactivated by germline mutations of the VHL tumor suppressor gene on chromosome 3p25-26, resulting in an overproduction of VEGF in non-hypoxic conditions. Ocular manifestations are expected in roughly half of VHL patients. Retinal capillary hemangioblastomas (RCHs) are the most commonly observed tumors in VHL and are often the initial manifestation of the disease. Ablative therapy, surgical resection, and pharmacotherapy have been implemented to control tumors. Left untreated, RCHs will often enlarge, emphasizing the importance of early diagnosis and treatment to preserve vision. Complications of enlarging peripheral or optic nerve tumors may be severe. Large RCHs may disrupt normal retinal architecture, eventually leading to exudative retinal detachment. Rarely, non-retinal manifestations, such as neovascularization of the iris or cornea, may progress to neovascular glaucoma and vision loss. Ablative therapy of larger tumors carries increasing risks and offers limited success, often necessitating surgical resection. Because this life-threatening disease is not routinely encountered in clinical practice, clinicians will benefit from our review which brings awareness to the ocular presentation of VHL and lifelong screening recommendations for diagnosed patients.

Oral Propranolol in Von Hippel Lindau Ocular Affection

“…They tent to appear as a solitary lesion usually located in the retinal periphery. [3][4][5][6] Other locations include juxtapapillary tumours, which arise around the optic nerve, most commonly in the temporal side. 1,3 Retinal hemangioblastomas are the most representative lesion in the eyes, derived from endothelial and glial components of the neurosensory retina and optic nerve head.…”

“…Progression and derived complications can lead to vision impairment in young patients. Screening of VHL disease should be performed when a retinal hemangioblastoma exists, 4,5 and any patient with an actual or probable diagnosis of the disease should take screening for ocular involvement. 3 The appearance of tumours can differ depending on the stage or the location.…”

“…[7][8][9] Other complications described in these patients are neovascularisation on the retina or iris (rubeosis iridis) secondary to ischemia, that can develop vitreous haemorrhage or neovascular glaucoma; cataract, or severe retinal fibrosis. 4,10,11 All of the previous events may lead to visual impairment, and that is why it is essential to the quality of life of affected patients, because most VHL patients develop retinal hemangioblastomas at a young age (22 -40 years). 5 Classic treatments include argon laser photocoagulation in small peripheral lesions and cryotherapy or brachytherapy in prominent lesions, or if they associate exudative retinal detachment.…”

“…In small asymptomatic peripheral lesions of less than 1.5 mm that remain stable, observation is an option. 4 There is no treatment for juxtapapillary lesions since their proximity to the optic nerve can damage it, so observation is indicated in this type of tumours. Intravitreal antiVEGF injections, verteporfin photodynamic therapy and surgery (vitrectomy or excision of the tumour) have also been tried.…”

“…Intravitreal antiVEGF injections, verteporfin photodynamic therapy and surgery (vitrectomy or excision of the tumour) have also been tried. 1,3,4,6,[12][13][14][15][16][17] There is no clue of systemic non-invasive treatment that has proved beneficial on the course of ocular progression of the disease. 12 Propranolol has also demonstrated its benefits and effects as adjuvant treatment in different kinds of cancers such as breast cancer, melanoma, liver cancer, amongst others.…”