Verteporfin photodynamic therapy of retinal capillary hemangioblastoma in von Hippel-Lindau disease

Bhattacharjee, Harsha; Deka, Hemalata; Deka, Satyen; Barman, Manab Jyoti; Mazumdar, Mrinal; Medhi, Jnanankar

doi:10.4103/0301-4738.58479

Cited by 15 publications

(4 citation statements)

References 5 publications

(10 reference statements)

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“…Retinal hemangioblastomas can occur anywhere within the retina (visual portion of the eye). They can occur in both eyes, and in multiple sites within the same eye [30].…”

Section: Retinal Angiomasmentioning

confidence: 99%

Role of VHL gene mutation in human renal cell carcinoma

Arjumand

Sultana

2011

Tumor Biol.

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The Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by the inactivation of VHL tumor suppressor gene, and somatic mutation of this gene has been related to the development of sporadic clear cell renal carcinoma. The affected individuals are at higher risk for the development of tumor in other organs, which include pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas. The VHL mRNA encodes a protein (pVHL) that contains 213 amino acid residues which migrate with an apparent molecular weight of 24 to 30 kDa. The VHL gene protein has multiple functions that are linked to tumor suppression, but the best recognized and evidently linked to the development of renal cell carcinoma (RCC) is inhibition of hypoxia-inducible factor (HIF), as well as plays a role in targeting HIF for ubiquitin-mediated degradation. Aberrations in VHL's function, either through mutation or promoter hypermethylation, lead to the accumulation of HIF, which will transcriptionally upregulate a sequence of hypoxia responsive genes, including epidermal growth factor, vascular endothelial growth factor, platelet-derived growth factor, and other proangiogenic factors, resulting in upregulated blood vessel growth, one of the prerequisites of a tumor. HIF plays a critical role in pVHL-defective tumor formation, raising the possibility that drugs directed against HIF or its downstream targets (such as vascular endothelial growth factor) may one day play a role in the treatment of RCC. Moreover, a number of drugs have been developed that target HIF-responsive gene products, many of these targeted therapies have demonstrated significant activity in kidney cancer clinical trials and signify substantive advances in the treatment of this disease.

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“…Retinal hemangioblastomas can occur anywhere within the retina (visual portion of the eye). They can occur in both eyes, and in multiple sites within the same eye [30].…”

Section: Retinal Angiomasmentioning

confidence: 99%

Role of VHL gene mutation in human renal cell carcinoma

Arjumand

Sultana

2011

Tumor Biol.

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“…Adjunctive endolaser photocoagulation at vitrectomy has been effective in severe cases, although the RCH recurrence rate is high [33]. Although not a routine therapy, verteporfin infusion in photodynamic therapy has recently been proven a suppressor of yes-associated protein and has been used for refractory retinal lesions [34-35]. Ruthenium-106 brachytherapy has been implemented for very large tumors, especially if there is no preoperative exudative retinal detachment [36].…”

Section: Reviewmentioning

confidence: 99%

Ocular Manifestations of von Hippel-Lindau Disease

Ruppert¹,

Gavin²,

Mitchell³

et al. 2019

Cureus

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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.

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“…Cryotherapy may be preferable to photocoagulation in cases where tumors are more anteriorly located, have a moderate degree of subretinal fluid, or are larger than 3.0 mm 11. Photodynamic therapy has recently been reported to induce the occlusion of both juxtapapillary and peripheral retinal capillary hemangiomas 812–14. For larger tumors (greater than 4.0 mm) or those that have been resistant to either prior photocoagulation or cryotherapy, plaque radiotherapy or low-dose external beam radiotherapy have been used successfully 1516.…”

Section: Retinal Vascular Tumorsmentioning

confidence: 99%

“…11 Photodynamic therapy has recently been reported to induce the occlusion of both juxtapapillary and peripheral retinal capillary hemangiomas. 8 12 – 14 For larger tumors (greater than 4.0 mm) or those that have been resistant to either prior photocoagulation or cryotherapy, plaque radiotherapy or low-dose external beam radiotherapy have been used successfully. 15 16 Vitreoretinal surgery is generally reserved for larger retinal capillary hemangiomas complicated by rhegmatogenous or tractional retinal detachment.…”

Section: Retinal Vascular Tumorsmentioning

confidence: 99%

Vascular tumors of the retina and choroid: Diagnosis and treatment

Turell

Singh

2010

Middle East Afr J Ophthalmol

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The vascular tumors of the retina and choroid comprise a diverse group of congenital and acquired lesions. The major vascular tumors of the retina include retinal capillary hemangioma, cavernous hemangioma of the retina, retinal vasoproliferative tumor, and racemose hemangiomatosis of the retina or Wyburn–Mason syndrome. Choroidal vascular tumors include circumscribed choroidal hemangioma and diffuse choroidal hemangioma. While classified as benign, visual symptoms secondary to exudative retinal detachment and a variety of other mechanisms are common and are a major source of long-term visual disability. While many therapeutic modalities exist, treatment of symptomatic cases can be challenging. Of particular importance, many of the vascular tumors of the retina and choroid have significant associations with systemic disease. As ocular symptoms are often the most common presenting disease manifestation, the ophthalmologist plays an important role in accurate and early diagnosis. The ability to initiate prompt screening and treatment in appropriate cases is critical. In the following article, the key clinical and diagnostic features of the major retinal and choroidal vascular tumors, their systemic associations, and the literature pertaining to the most currently available treatment strategies are reviewed.

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Verteporfin photodynamic therapy of retinal capillary hemangioblastoma in von Hippel-Lindau disease

Cited by 15 publications

References 5 publications

Role of VHL gene mutation in human renal cell carcinoma

Role of VHL gene mutation in human renal cell carcinoma

Ocular Manifestations of von Hippel-Lindau Disease

Vascular tumors of the retina and choroid: Diagnosis and treatment

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