Tuberose sclerosis complex. 2017

John L Crompton
Institute of Ophthalmology and Visual Science, University of Adelaide and Royal Adelaide Hospital, Adelaide, South Australia, Australia.

UI MeSH Term Description Entries
D012164 Retinal Diseases Diseases involving the RETINA. Disease, Retinal,Diseases, Retinal,Retinal Disease
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004596 Electroretinography Recording of electric potentials in the retina after stimulation by light. Electroretinographies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012165 Retinal Ganglion Cells Neurons of the innermost layer of the retina, the internal plexiform layer. They are of variable sizes and shapes, and their axons project via the OPTIC NERVE to the brain. A small subset of these cells act as photoreceptors with projections to the SUPRACHIASMATIC NUCLEUS, the center for regulating CIRCADIAN RHYTHM. Cell, Retinal Ganglion,Cells, Retinal Ganglion,Ganglion Cell, Retinal,Ganglion Cells, Retinal,Retinal Ganglion Cell
D014402 Tuberous Sclerosis Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Bourneville Disease,Epiloia,Phakomatosis, Bourneville,Adenoma Sebaceum,Bourneville Phakomatosis,Bourneville Syndrome,Bourneville's Disease,Bourneville's Syndrome,Bourneville-Pringle Disease,Bourneville-Pringle's Disease,Cerebral Sclerosis,Phacomatosis, Bourneville,Sclerosis Tuberosa,Tuberose Sclerosis,Tuberous Sclerosis Complex,Bourneville Phacomatosis,Bourneville Pringle Disease,Bourneville Pringle's Disease,Bourneville-Pringles Disease,Cerebral Scleroses,Disease, Bourneville-Pringle,Disease, Bourneville-Pringle's,Sclerosis, Cerebral,Sclerosis, Tuberose,Sclerosis, Tuberous,Syndrome, Bourneville,Syndrome, Bourneville's
D041623 Tomography, Optical Coherence An imaging method using LASERS that is used for mapping subsurface structure. When a reflective site in the sample is at the same optical path length (coherence) as the reference mirror, the detector observes interference fringes. OCT Tomography,Optical Coherence Tomography,Coherence Tomography, Optical,Tomography, OCT

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