CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia |
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| Authors: | Khaled K. Abu-Amero Jose Morales Leyla A. Aljasim Deepak P. Edward |
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| Affiliation: | 1. Research Department, King Khaled Eye Specialist Hospital Riyadh, Saudi Arabia,;2. Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia,;3. Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA, and;4. Research Department, King Khaled Eye Specialist Hospital Riyadh, Saudi Arabia,;5. Research Department, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA |
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| Abstract: | To describe the genotype and phenotype in 14 unrelated Saudis with juvenile open angle glaucoma (JOAG). Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes. Twelve (85.7%) patients had apparent sporadic inheritance and 2 (14.3%) presented with a family history of glaucoma. Overall, 12 patients (85.7%) had CYP1B1 mutation. Nine patients had CYP1B1 mutations in a homozygous status. Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change. Two patients had p.G61E mutation in a compound heterozygous status with another CYP1B1 mutation (p.L432V). Two patients had p.G61E in a heterozygous status with no other mutation, while one patient had no mutation(s). None of the patients had any mutation(s) in the MYOC or LTBP2 genes. JOAG associated with CYP1B1 mutations occurs at a high rate in the Saudi population. A specific genotype-phenotype relationship was not demonstrated. |
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| Keywords: | CYP1B1 juvenile open angle glaucoma LTBP2 myocilin saudi arabia |
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