title: Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma.
abstract: A case is reported in which large colobomas of the retina and choroid are found bilaterally in a young female who also has a pituitary tumor and mental retardation. Visual field data are presented and correlated with the retinal appearances. Relevant embryology is reviewed, and a table of systemic abnormalities associated with retinal/choroidal colobomas is presented.
authors.affiliation: School of Optometry, University of Waterloo, Ontario, Canada.
authors.forename: T D
authors.initials: TD
authors.lastname: Williams
mesh_terms: D000236:Adenoma / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D002829:Choroid / Q000002:abnormalities* / Q000503:physiopathology; D003103:Coloboma / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000503:physiopathology; D009898:Optic Disk / Q000002:abnormalities* / Q000503:physiopathology; D010911:Pituitary Neoplasms / Q000473:pathology / Q000503:physiopathology; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology; D014792:Visual Acuity; D014794:Visual Fields / Q000502:physiology