title: Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
abstract: We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family. The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.
authors: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
authors: Arif O
authors: AO
authors: Khan
authors: Lama
authors: L
authors: Al-Abdi
authors: Jawahir Y
authors: JY
authors: Mohamed
authors: Mohammed A
authors: MA
authors: Aldahmesh
authors: Fowzan S
authors: FS
authors: Alkuraya