title: Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
abstract: OBJECTIVE
  To review the ocular surface and anterior segment findings in Brachmann-de Lange syndrome and describe a new case involving aniridia and congenital glaucoma.
  
  
  METHODS
  A newborn presented 2 days after birth with bilateral cloudy corneas, photophobia, and epiphora. We provide a 5-year descriptive history and clinical course with review of the literature on Brachmann-de Lange syndrome.
  
  
  RESULTS
  Multiple ocular surgeries were performed for ocular sequelae from aniridia and congenital glaucoma including Ahmed valve placement and penetrating keratoplasties in both eyes. At 5.5 years of age, the child had a clear graft OD and amblyopia from graft failure OS following recurrent graft infections. A review of Brachmann-de Lange syndrome found 43 patients with ocular surface and anterior segment findings. The most common findings included conjunctivitis, blepharitis, microcornea, and corectopia. Aniridia and congenital glaucoma were not previously reported with Brachmann-de Lange syndrome.
  
  
  CONCLUSIONS
  Ocular surface and anterior segment abnormalities must be considered when examining patients with Brachmann-de Lange syndrome. Ocular findings may include vision-threatening anomalies, as in our case with aniridia and congenital glaucoma. To our knowledge, these findings are previously unreported in Brachmann-de Lange syndrome.
authors.affiliation: Department of Ophthalmology, University of California-Davis, 4860 Y Street, Sacramento, CA 95817-2307, USA. lee0003@aol.com
authors.forename: W Barry
authors.initials: WB
authors.lastname: Lee
authors.forename: James D
authors.initials: JD
authors.lastname: Brandt
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Mannis
authors.forename: Charles Q
authors.initials: CQ
authors.lastname: Huang
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Rabin
mesh_terms: D015783:Aniridia / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000869:Anterior Eye Segment / Q000002:abnormalities*; D002675:Child, Preschool; D015715:Corneal Edema / Q000151:congenital / Q000601:surgery; D003318:Corneal Opacity / Q000151:congenital / Q000601:surgery; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005901:Glaucoma / Q000151:congenital* / Q000473:pathology / Q000601:surgery; D020327:Glaucoma Drainage Implants; D006801:Humans; D007429:Intraocular Pressure; D015948:Keratoplasty, Penetrating