title: CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
abstract: Nonsyndromic primary newborn glaucoma, the most severe form of primary congenital glaucoma, typically is bilateral and often the result of CYP1B1 mutations, particularly in certain consanguineous populations. Truly unilateral cases are uncommon and genetically not well studied. During a 9-year period, we tested 5 consecutive children with unilateral primary newborn glaucoma from Saudi Arabia, where CYP1B1 mutations are the cause for 91% of bilateral primary newborn glaucoma cases. None of these children with unilateral primary newborn glaucoma harbored CYP1B1 mutations, suggesting that in this population the pathogenesis of unilateral disease differs from that of bilateral disease.
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Aldahmesh
authors.forename: Jawahir Y
authors.initials: JY
authors.lastname: Mohamed
authors.forename: Hadia
authors.initials: H
authors.lastname: Hijazi
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D065633:Cytochrome P-450 CYP1B1; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D007429:Intraocular Pressure; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia / Q000453:epidemiology; D014065:Tonometry, Ocular
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1