Retinal manifestations of neurofibromatosis. Diagnosis and management
M. Destro, D. J. D'Amico, E. S. Gragoudas, R. J. Brockhurst, M. K. Pinnolis, D. M. Albert, T. M. Topping and C. A. Puliafito
Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston 02114.
Five patients presented with vision-threatening retinal tumors and systemic
signs of neurofibromatosis, including neurofibromatosis type 1 (four
patients) and familial cafe-au-lait spots (one patient). These tumors
included large retinal astrocytic hamartomas, multiple retinal capillary
hemangiomas, and combined hamartomas of the retina and retinal pigment
epithelium, which resulted in rubeotic glaucoma, vitreous hemorrhage, and
retinal detachment. Surgical therapy included retinal cryopexy, xenon and
argon photocoagulation, scleral buckling, and pars plana vitrectomy with
excisional retinal biopsy. Retinal tumors may result in marked visual loss
in patients with neurofibromatosis, and vitreoretinal surgery may restore
useful vision in some of these patients.
