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Am J Ophthalmol. 1978 Nov;86(5):688-98.

Astrocytic hamartoma of the retina not associated with tuberous sclerosis.


A 6-year-old boy had a peripapillary lesion diagnosed as retinal astrocytic hamartoma, which was not associated with tuberous sclerosis, neurofibromatosis, or intraocular extension of a glioma. The patient was observed for nine years, during which time the lesion grew significantly. Because of this growth and the evidence of proximal optic nerve involvement on computed tomography, radiation therapy was administered with a resultant marked reduction in visual acuity. The eye was subsequently enucleated. The enucleated eye was studied by both light and transmission electron microscopy. The specimen had a retinal astrocytic hamartoma with sparse vascularization and only superficial optic nerve involvement. Additionally, it revealed optic nerve drusen in varying stages of development, significant accumulations of subretinal macrophages, and an almost total loss of retinal outer segments with the preservation of the retinal pigment epithelium.

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