A family with Von Hippel-Lindau disease with different presentations

Abstract

Objective: To report three cases of Von Hippel-Lindau (VHL) disease from a family with different presentations.
Method: Case series.
Results: Case 1, a 14-year-old Malay boy with a history of gradual blurring of vision in both eyes presented with sudden deterioration of right vision. Fundus examination revealed bilateral retinal capillary hemangioma with exudative retinal detachment. His right eye underwent combination therapy of laser photocoagulation, cryotherapy, intravitreal anti-VEGF and photodynamic therapy, but failed to improve vision. His left vision
deteriorated and eventually required surgical intervention. Case 2 was the sister of case 1. She was a 17-year-old Malay girl who presented with sudden onset of left eye pain and redness. Diagnosis of left eye rubeotic glaucoma with closed funnel retinal detachment secondary to a huge retinal hemangioma was made. She underwent left eye external drainage of subretinal fluid plus anterior retinal cryopexy. The rubeotic vessel regressed postoperatively and IOP reduced. Case 3 was the eldest sister of case 1; a 19-year-old Malay girl who came for eye screening after two of her siblings were diagnosed with VHL. She was, however, asymptomatic. Fundus examination revealed right retinal capillary hemangioma. She was treated with laser photocoagulation and her condition remained stable. Systemic investigations identified midline cystic masses in the brain, spine and pancreas. 
Conclusions: This case series highlight different clinical pictures of Von Hippel-Lindau disease. As marked visual loss is a dreadful sequela of VHL, it is important to screen the family members as early detection and management of ocular and systemic lesions save sight and life.