title: Ophthalmic manifestations of tuberous sclerosis.
abstract: The ophthalmic manifestations of tuberous sclerosis include a variety of nonretinal ophthalmic findings which, other than adenoma sebaceum of the lids, are uncommon. Approximately half the patients with tuberous sclerosis have retinal or optic nerve hamartomas; in half of these patients the hamartomas occur bilaterally. Three basic morphologic types of retinal hamartomas are recognized: the most common type is a subtle, relatively flat, smooth-surfaced, salmon-colored, semitransparent, and circular or oval-shaped lesion located in the superficial retina, most commonly near or at the posterior pole. The second type is an easily recognized opaque, white, elevated, multinodular calcified lesion that is frequently described as resembling a mulberry. A third type of lesion contains features of the other two, being calcified and nodular centrally, whereas its perimeter is semitranslucent, smooth, and salmon-colored. The hamartomas may be richly vascularized. They generally do not grow, but over decades some of the lesions may become calcified. Visual loss from retinal and optic nerve hamartomas rarely occurs. Because growth and change of the fundus lesions are rare, treatment is not indicated. Retinoblastoma of the optic nerve and retina is the most important lesion that must be differentiated from the hamartomas seen with tuberous sclerosis.
authors.affiliation: Mayo Clinic, Mayo Graduate School of Medicine, Department of Ophthalmology, Rochester, Minnesota 55905.
authors.forename: D M
authors.initials: DM
authors.lastname: Robertson
mesh_terms: D001766:Blindness / Q000175:diagnosis / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000150:complications / Q000473:pathology; D006222:Hamartoma / Q000150:complications / Q000473:pathology; D006801:Humans; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012160:Retina / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis / Q000473:pathology*