title: A novel CYP1B1 mutation with congenital glaucoma and total aniridia.
abstract: OBJECTIVE
  Primary congenital glaucoma is a common disorder in the Middle East mainly caused by mutations in the the CYP1Bl gene. We report a family with three siblings that presented with recalcitrant childhood glaucoma, aniridia in two siblings with a novel CYP1B1 gene mutation.
  
  
  METHODS
  Review of pedigree, clinical history and clinical course of the family. Genetic testing in the affected family members.
  
  
  RESULTS
  Three sisters presented with clinical findings of severe congenital glaucoma and a positive family history. Clinical examination of two of sisters revealed corneal scarring, bilateral aniridia with severe glaucoma that required multiple surgical procedures to control intraocular pressure. The third sibling presented with garden-variety primary congenital glaucoma. Genetic analysis revealed a novel CYP1B1 gene mutation (g.8291 C > T; p.S485F).
  
  
  CONCLUSIONS
  CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dysgenesis that includes recalcitrant glaucoma, corneal opacification and aniridia.
authors.affiliation: King Khaled Eye Specialist Hospital , Riyadh , Kingdom of Saudi Arabia .
authors.forename: Sultan
authors.initials: S
authors.lastname: Alzuhairy
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Sami
authors.initials: S
authors.lastname: Al-Shahwan
authors.forename: Deepak P
authors.initials: DP
authors.lastname: Edward
mesh_terms: D015783:Aniridia / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D002924:Ciliary Body / Q000601:surgery; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020327:Glaucoma Drainage Implants; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D007223:Infant; D007231:Infant, Newborn; D007429:Intraocular Pressure / Q000235:genetics; D017075:Laser Coagulation; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D014130:Trabeculectomy; D014792:Visual Acuity
chemical_list: D065633:Cytochrome P-450 CYP1B1
keywords: Aniridia; CYP1B1 mutation; primary congenital glaucoma