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Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations
Journal article   Peer reviewed

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Arif O. Khan, Lama Al-Abdi, Jawahir Y. Mohamed, Mohammed A. Aldahmesh and Fowzan S. Alkuraya
Journal of AAPOS, Vol.15(2), pp.198-199
01/04/2011
DOI: https://doi.org/10.1016/j.jaapos.2011.01.156
PMID: 21596299

Abstract

Life Sciences & Biomedicine Ophthalmology Pediatrics Science & Technology
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.

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