title: Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen.
abstract: Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report the case of a 3-year-old girl with AOS who was also found to have bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen. To the best of our knowledge, this is the first case of bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen to be reported in association with the AOS.
authors.affiliation: Princess Alexandra Eye Pavilion, Lothian NHS Trust, Chalmers Street, Edinburgh, UK. glascaratos@doctors.org.uk
authors.forename: Gerassimos
authors.initials: G
authors.lastname: Lascaratos
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Lam
authors.forename: William D
authors.initials: WD
authors.lastname: Newman
authors.forename: Mary
authors.initials: M
authors.lastname: MacRae
mesh_terms: D002386:Cataract / Q000150:complications*; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000473:pathology; D015594:Optic Disk Drusen / Q000150:complications* / Q000000981:diagnostic imaging; D010211:Papilledema / Q000209:etiology; D012536:Scalp Dermatoses / Q000150:complications / Q000151:congenital* / Q000473:pathology; D014463:Ultrasonography