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Arch Ophthalmol. 2000 May;118(5):711-5.

Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex.

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Department of Pathology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107-5598, USA.


Astrocytic hamartomas of the retina are the principal ocular manifestation of tuberous sclerosis complex. Iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata. We describe 2 patients who were found on histopathological examination to have lesions consistent with hamartomas of the iris pigment epithelium and ciliary body epithelium. Iris abnormalities, including pupillary irregularities, were noted on clinical examination prior to the development of iris neovascularization in both patients. These observations suggest that iris abnormalities, including atypical colobomas, may be caused by hamartomas of the iris pigment epithelium and ciliary epithelium in some patients with tuberous sclerosis complex. To our knowledge, hamartomas of tissues derived from the anterior part of the neuroectodermal optic cup have not been reported in cases of tuberous sclerosis complex.

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