A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

Sultan AlzuhairyKing Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia,

Khaled K. Abu-AmeroDepartment of Ophthalmology, King Saud University, Riyadh, Kingdom of Saudi Arabia, and

Sami Al-ShahwanKing Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia,

Deepak P. EdwardKing Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia, ;Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore Maryland, USACorrespondence[email protected]

References

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
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Khan AO, Aldahmesh MA, Al-Abdi L, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet Sep 2011;32:138–142
PubMed Web of Science ®Google Scholar
Khan AO, Aldahmesh MA, Al-Amri A. Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. Ophthalmic Genet Jun 2008;29:67–71
PubMed Web of Science ®Google Scholar

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A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

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A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

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