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Retinal manifestations of neurofibromatosis. Diagnosis and management
M Destro1, D J D'Amico, E S Gragoudas
1Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston 02114.
Abstract:
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.
Insights
Neurofibromatosis patients can develop vision-threatening retinal tumors. Vitreoretinal surgery may help restore vision in these cases.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Neurofibromatosis is a genetic disorder associated with various tumors.
- Retinal tumors are a known, though less common, manifestation of neurofibromatosis.
Observation:
- Five patients with neurofibromatosis (NF1 and familial), presenting with vision-threatening retinal tumors, were studied.
- Tumors included astrocytic hamartomas, capillary hemangiomas, and combined hamartomas, leading to complications like glaucoma and retinal detachment.
Findings:
- Surgical interventions such as cryopexy, photocoagulation, scleral buckling, and vitrectomy were employed.
- These treatments aimed to manage the complications arising from the retinal tumors.
Implications:
- Retinal tumors in neurofibromatosis can cause significant vision loss.
- Vitreoretinal surgery offers a potential therapeutic option for preserving or restoring useful vision in affected individuals.