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Author Affiliations: Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania.
Tuberous sclerosis complex (TSC) is a multisystem hamartomatous disorder that can occur in nearly every tissue in the body but primarily affects the skin, brain, and eye. Major and minor diagnostic criteria for TSC have been established by the Tuberous Sclerosis Consensus Conference in 19981 (eTable 1). A diagnosis of definite TSC is established by the presence of 2 major features or 1 major feature plus 2 minor features. A diagnosis of probable TSC requires the presence of 1 major feature and 1 minor feature, and a diagnosis of possible TSC requires the presence of either 1 major feature or 2 or more minor features.
Shields CL, Reichstein DA, Bianciotto C, Shields JA. Retinal Pigment Epithelial Depigmented Lesions Associated With Tuberous Sclerosis Complex. Arch Ophthalmol. 2012;130(3):387–390. doi:https://doi.org/10.1001/archopthalmol.2011.1707
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