pediatrics
Congenital Eye Abnormalities
Coloboma
Coloboma is a gap in the structure of the eye that may affect the eyelid, iris, retina, or optic nerve of one or both eyes. Coloboma of the eyelid is frequently associated with epibulbar dermoid cysts and is common in Treacher Collins syndrome, Nager syndrome, and Goldenhar syndrome. Coloboma of the iris raises the possibility of CHARGE association (coloboma,heart defects,atresia of the choanae,retardation of mental and/or physical development,genital hypoplasia, andear abnormalities), cat eye syndrome, Kabuki syndrome, or Aicardi syndrome. 