Open AccessA case of von Hippel-Lindau disease with exudative maculopathy
Author(s) -
Basel T. Ba ' arah
Publication year - 2009
Publication title -
oman journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.306
H-Index - 16
eISSN - 0974-7842
pISSN - 0974-620X
DOI - 10.4103/0974-620x.53038
Subject(s) - medicine , von hippel–lindau disease , pathology , pheochromocytoma , cryotherapy , disease , surgery
Von Hippel-Lindau (VHL) disease is a rare multisystem familial tumor syndrome of autosomal dominant inheritance. Hallmark lesions include retinal, cerebellum and spinal cord hemangioblastomas, renal cell carcinomas, adrenal pheochromocytomas, angiomatous or cystic lesions of the kidneys, pancreas, and epididymis. We report a case of VHL disease in a 26-year-old patient who presented with exudative macular edema. Ocular and systemic studies revealed the presence of retinal and central nervous system hemangioblastomas, adrenal pheochromocytoma, multiple pancreatic, and kidney cysts. The retinal angiomas were successfully treated with argon laser photocoagulation and cryotherapy.