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Juan Pablo Davila, alejandra valladares, Thamar Gomez-Villegas, Araceli Rojas-Diaz; VON HIPPEL LINDAU: 3q134X MUTATION FINDING. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1360.
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© ARVO (1962-2015); The Authors (2016-present)
To present a gene mutation in a family with a history of Von Hippel Lindau (VHL) disease.
Herein we present a case of a sixteen year old male asymptomatic. Family diseases: maternal grandmother deceased from unspecified cancer, mother deceased from renal carcinoma, pancreatic cysts and central nervous system hemangioblastomas. Clinical findings were visual acuity in both eyes 1 logmar, unaltered anterior segment. Right Eye fundus with a single superotemporary hemangioblastoma (3 Disc Diameters), with a dilated feeding artery, and a tortuous draining vein from and up to the optic nerve. Left Eye fundus was normal. Fluorescent angiography shows early leakage and marked hyperfluorescence in the tortuous vessels and the site of the hemangioblastoma, no macular edema was observed. Brain magnetic resonance imaging was normal, abdominal contrast material enhanced computerized tomography shows well defined cysts in the head of pancreas, kidneys were normal. Patient treated with 3 sessions of cryotherapy (freezing and thawing technique) on bony vessels and YAG laser 532nm, five weeks after cryotherapy in afferent and efferent vessels and the second 4 weeks later. Results indicative of attenuation of bony vessels post-treatment which constitutes an indicator of treatment success.
Genetic study was performed on the mother prior to death, to the patient and siblings (2 brothers and 1 sister), finding a mutation 3q134X for VHL in the mother, patient and one of his brothers. Eye, brain and abdominal scanning was normal in his brother. VHL disease results from a germ line mutation in the VHL gene which is a tumor suppressor gene located on the short arm of chromosome 3 (3p25-26). Discovered by Latif and colleagues in 1993, helped understanding of the molecular pathology of VHL disease. This gene encodes the VHL protein, which is a tumor suppressor protein. In spite of these important advances in the understanding of VHL disease, the overall extremely variable intra- and interfamilial expressivity of the disease remains unclear.
Retinal hemangioblastoma is one of the most frequent occurring tumors during the course of VHL disease and can be responsible for significant visual impairment. Gene mutation 3q134X found in this family members will help to compare the common clinical presentation in patients with VHL 3p25-26.
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