Abstract

VON HIPPEL-LINDAU SYNDROME, IS A RARE GENETIC DISORDER WITH MULTISYSTEM INVOLVEMENT,IS CHARACTERISED BY THE DEVELOPMENT OF MULTIPLE VASCULARISED TUMOURS,THE DISEASE USUALLY STARTS WITH RETINAL HEMANGIOMAS.
WE REPORT CASE OF A 11YEAR-OLD FEMALE PATIENT CAME WITH DIMNESS OF VISION IN LEFT EYE FOR 1YEAR.ON EXAMINATION BCVA OD 6/6,OS 3/60.OU IOP:29 MMHG,ANTERIOR SEGMENT NORMAL IN OU ,ON FUNDUS EXAMINATION AN SMALL ANGIOMAS IN OD, IN OS MULTIPLE ANGIOMAS WITH SHALLOW INFERIOR EXUDATIVE RETINAL DETACHMENT WITH ANGIOMASIN OS.THE BRAIN MRI SHOWS 4TH VENTRICULAR EPENDYMOMA. AN ULTRASOUND ABDOMEN SHOES MILD ASCITES AND OVARIAN CYST.FATHER HAD SIMILAR CONDITION WITH BLINDNESS BECAUSE OF NO TREATMENT.
CONCLUSION:VHL MAY BE PRESENTED WITH MULTI SYSTEM DISEASE AND FAMILIAL PROBLEM.