title: Iris sector heterochromia as a marker for neural crest disease.
abstract: A 6-month-old female infant with biopsy-proved Hirschsprung's disease had associated sector heterochromia of the irides. The association between sector heterochromia and Hirschsprung's disease has been previously reported and both conditions have been ascribed to neural crest defects. Histologic characteristics of the ocular involvement have not previously been reported, to our knowledge. Histopathologic examination of the globes revealed decreased iris stroma, decreased pigmentation in the anterior stroma, and reduced numbers of pigment-producing cells in the affected areas. Both the ocular and gastrointestinal findings reflect abnormalities in tissues of neural crest origin.
authors.affiliation: Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: S M
authors.initials: SM
authors.lastname: Brazel
authors.forename: T J
authors.initials: TJ
authors.lastname: Sullivan
authors.forename: P S
authors.initials: PS
authors.lastname: Thorner
authors.forename: M P
authors.initials: MP
authors.lastname: Clarke
authors.forename: W S
authors.initials: WS
authors.lastname: Hunter
authors.forename: J D
authors.initials: JD
authors.lastname: Morin
mesh_terms: D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007499:Iris Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D009418:S100 Proteins / Q000378:metabolism
chemical_list: D009418:S100 Proteins