Glial hamartoma of the retina in generalized neurofibromatosis, Von Recklinghausen's disease.

Retinal tumour is one of the less frequent manifestations of von Recklinghausen's neuro-fibromatosis, and the histology of the retinal lesions is rarely reported. It is the purpose of this paper to present a case of extensive glial hamartoma of the retina associated with glaucoma and advanced proliferative changes of the uvea in an adolescent girl with generalized neurofibromatosis. The case is reported to describe the histopathology of the tumour and of uveal changes, to emphasize the importance of the iris manifestations of the disease, and to stimulate further thought about pathogenesis of the ectropion uveae and of the late onset glaucoma in von Recklinghausen's disease. Case report A x2-year-old white girl was seen by her ophthalmologist on September I3, I967, with a 3-week history of mild discomfort and redness in the right eye, and recent awareness of loss of vision. Initial examination of the right eye revealed light perception, a dilated and unreactive pupil, severe glaucoma, engorgement of the iris vessels, heavy aqueous flare and vitreous clouding, haemorrhage on the disc, and dilatation of the retinal vessels. She was treated with miotics, acetazolamide, and systemic steroids. The unexplained glaucoma persisted and the patient was referred to the Wilmer Institute for further evaluation and treatment. Examination On October 9, I967, the visual acuity of the right eye was hand movements in the inferotemporal field with poor light projection in the other quadrants. The bulbar conjunctiva was diffusely hyperaemic. The cornea was oedematous and there was moderately heavy aqueous flare. The pupil was irregularly dilated and unreactive to direct and indirect light. There were multiple discrete pigmented iris nodules of various sizes, advanced neovascularization of the iris, widespread peripheral anterior synechiae, and ectropion uveae (Fig. i). Relative stromal atrophy was present in the upper temporal iris; the atrophy was not of sufficient degree to explain the ectropion. Vitreous haze hampered the ophthalmoscopic examination, but yellowish elevations of the retina were seen around the disc, and a smooth yellow retinal elevation several disc diameters in size was noted in the superotemporal periphery. The nature of the fundus lesions could not be determined ophthal-moscopically. The retinal vessels were engorged, particularly those going to the upper temporal lesion. The ocular tension was 55 mm.Hg (Schi6tz). In the left eye the visual acuity was 201I5 with a full field, and the left eye was normal in all respects except for the presence of pigmented iris nodules …