Lopez Juan Pablo, Ossandón Diego, Miller Patricio, Sánchez Lorena, Winter Augusto
Department of Ophthalmology, Clinica Alemana de Santiago and Universidad Del Desarrollo, Santiago, Chile.
J AAPOS. 2009 Aug;13(4):413-4. doi: 10.1016/j.jaapos.2009.05.008.
Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.
