Von Hipple Lindau Disease Case Study

Von hipple lindau disease and role of anti VEGFDr. Hina LoyaLayton Rahmatullah Benevolent TrustFree Base Eye Hospital, Korangi, KarachiAbstract:Von Hipple Lindau disease is an autosomal dominant condition in which there is mutation of VHL tumor suppressor gene.1, 2 The syndrome is named after Eugene von Hippel, who described the retinal tumors (1904), and Arvid Lindau, who described their association with other tumors (1926).3 A 25 year old girl was presented in Layton Rahamtullah Benevelont Trust Korangi Karachi, with decrease vision in left eye for last 6 months, with no other signs and symptoms. She was diagnosed as VHL on the basis of clinical findings and positive family history. Early diagnosis can lead to prompt treatment and improved

Patient family was investigated. On examining her siblings, all of them were found to have similar lesions, treated with laser photocoagulation. And were sent for further investigations. After all the investigation, patient was managed in the line of von hippel lindau disease, and a multidisciplinary approach was adapted. The patient was concelled and requested for family screening. For ocular symptoms we immediately performed laser photocoagulation to all the heamangioblastomas in four quadrants, and feeder vessels were successfully cauterized. In addition intravitreal bevacizumab was administered and subsequent injections were scheduled, which not only subsided macular edema as shown in fig 3 but also improved her vision to 6/9. Discussion: It is a rare disorder consisting of benign tumors in multi-organ systems which haspotential for malignant transformation. In the presence of a positive family history, VHL disease can be diagnosed clinically in a patient with at least one typical VHL tumor. Typical VHL tumors are retinal, spinal and cerebellar haemangioblastoma, renal cell carcinoma, and pheochromocytoma. In patients with a negative family history of VHL-associated tumors, a diagnosis of VHL disease can also be made when they exhibit two or more haemangioblastomas, or a single haemangioblastoma in association with another typical manifestation.6, 7 One fourthof the patients present with tumors of other organs and more than half of the patient have retinal hemangiomas, which are supplied by retinal feeder vessels, along with exudation and can present with vitreous hemorrhage. Retinal hemangiomas are the early manifestation of the disease. The hemangioma can be exophytic, endophytic or sessile. Endophytic form protrudes from the optic disc into the vitreous. The exophytic form is reddish orange nodular lesions as present in the patient. RHB usually involve the peripheral retina. The mean age of