DOI: 10.36347/sjmcr.2015.v03i07.019

Pages: 617-621

The objective of this study is to report a rare case of Von Hippel Lindau syndrome with family history and multisystem involvement. It is an autosomal dominant condition caused by mutation of VHL tumour suppressor gene on chromosome 3p25-26. A 24 year old female presented to our OPD with presenting complaints of diminution of vision in both eyes since four years and photopsia since two years. She also complained of hearing loss, tinnitus and vertigo since one year. Ocular workup including visual acuity, fundus examination, Fundus Fluoroscein Angiography (FFA ) ,B Scan ultrasonography, colour doppler ,MRI Brain ,abdominal CT scan and pure tone audiometry(PTA) were performed. Her four elder brothers and father had similar ocular complaint for which her two brothers underwent laser photocoagulation. Her visual acuity in both eyes was perception of light present and projection of rays inaccurate. Fundus examination revealed multiple tumour masses in both eyes with dilatation and tortousity of supplying artery and draining vein extending from optic disc, suggesting retinal capillary hemangioblastoma.FFA showed early hyperfluorescence, late leakage with rapid filling and exit of dye. B scan revealed vitreous hemorrhage, vitreous and retinal detachment. Doppler showed increased vascularity in feeder vessels. CT Abdomen revealed multiple renal and pancreatic cysts. MRI Brain revealed focal hyperintensity on right side on T1 image suggesting endolymphatic sac tumour. PTA showed sensorineural hearing loss. She was advised vitreoretinal surgery in both eyes and surgical resection of endolymphatic sac tumour.