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Abstract #46072 Published in IGR 13-2
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations
Khan AO; Al-Abdi L; Mohamed JY; Aldahmesh MA; Alkuraya FSJournal of AAPOS 2011; 15: 198-199
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.
A. O. Khan. Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, PO Box 7191, Riyadh, 11462, Saudi Arabia. Email: arif.khan@mssm.edu
Classification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
