title: Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome.
abstract: Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocornea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year-old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.
mesh_terms: D003103:Coloboma / Q000150:complications*; D003316:Corneal Diseases / Q000150:complications*; D003937:Diagnosis, Differential; D005260:Female; D005901:Glaucoma / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D009900:Optic Nerve / Q000002:abnormalities*; D012164:Retinal Diseases / Q000150:complications*; D012415:Rubinstein-Taybi Syndrome / Q000150:complications*