Dr.Shaifali Chahar

Dr.Santosh G. Honavar

Abstract

Purpose: To describe ophthalmic features, systemic associations, management, and outcomes in Von Hippel-Lindau disease (VHL). Method: Retrospective, interventional case series. Results: Twenty-two eyes of 14 patients were analyzed, bilateral in 8 (73%). Five (71%) were females. The median age was 27y. Genetic test was positive for VHL gene in all. Retinal capillary hemangioblastoma with or without exudative retinal detachment was seen in 18(82%) eyes and optic nerve head angioma in 4(19%). Systemic involvement was seen in 6 (43%). Treatment included transpupillary thermotherapy, cryotherapy, intravitreal anti-VEGF, plaque brachytherapy, pars plana vitrectomy, photodynamic therapy and enucleation in various combinations tailored to the cases. At a mean follow-up of 134 weeks, 16(73%) were better or stable while 8(36%) showed progression. Conclusion: It is imperative to accurately diagnose, systemically evaluate, and appropriately manage VHL.