title: Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.
abstract: Corneal enlargement during the first 3 years of life can be a sign of early childhood glaucoma and optic nerve head cupping is a useful confirmatory finding. We report 3 children with corneal enlargement without optic nerve head cupping who had recessive CYP1B1 mutations, the most common identifiable cause of primary congenital glaucoma. One child later developed unilateral Haab striae, still in the absence of optic disk cupping. These cases illustrate that CYP1B1-related corneal changes can occur in young children without visible optic nerve head damage.
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. Electronic address: 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: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D002675:Child, Preschool; D003316:Corneal Diseases / Q000235:genetics*; D065633:Cytochrome P-450 CYP1B1; D005260:Female; D005808:Genes, Recessive; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009898:Optic Disk / Q000473:pathology*
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1