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Ophthalmic Genetics Volume 36, 2015 - Issue 2
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Letter to the Journal

CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia

Khaled K. Abu-AmeroResearch Department, King Khaled Eye Specialist Hospital Riyadh, Saudi Arabia, ;Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, ;Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA, and Correspondence[email protected]
,
Jose MoralesResearch Department, King Khaled Eye Specialist Hospital Riyadh, Saudi Arabia,
,
Leyla A. AljasimResearch Department, King Khaled Eye Specialist Hospital Riyadh, Saudi Arabia,
&
Deepak P. EdwardResearch Department, King Khaled Eye Specialist Hospital Riyadh, Saudi Arabia, ;Research Department, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Pages 184-187 | Received 01 Jun 2013, Accepted 24 Aug 2013, Published online: 07 Oct 2013

References

  • Wiggs JL, Del Bono EA, Schuman JS, et al. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology 1995;102:1782–1789
  • Turalba AV, Chen TC. Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG). Semin Ophthalmol 2008;23:19–25
  • Acharya M, Mookherjee S, Bhattacharjee A, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006;12:399–404
  • Khan AO, Al-Abdi L, Mohamed JY, et al. Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. J Aapos 2011;15:198–199
  • Abu-Amero KK, Osman EA, Mousa A, et al. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Mol Vis 2011;17:2911–2919
  • Su CC, Liu YF, Li SY, et al. Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma. Eye (Lond) 2012;26:1369–1377
  • Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Human Genet 2002;70:448–460
  • Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009;84:664–671

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