Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations
Copyright policy )Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations
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.
- King Saud University Saudi Arabia
- King Khalid University Saudi Arabia
- Alfaisal University Saudi Arabia
- King Khaled Eye Specialist Hospital Saudi Arabia
Male, Siblings, Homozygote, Gonioscopy, Pedigree, Consanguinity, Cytoskeletal Proteins, Carrier State, Cytochrome P-450 CYP1B1, Mutation, Timolol, Humans, Female, Aryl Hydrocarbon Hydroxylases, Child, Eye Proteins, Antihypertensive Agents, Glaucoma, Open-Angle, Intraocular Pressure, Glycoproteins
Male, Siblings, Homozygote, Gonioscopy, Pedigree, Consanguinity, Cytoskeletal Proteins, Carrier State, Cytochrome P-450 CYP1B1, Mutation, Timolol, Humans, Female, Aryl Hydrocarbon Hydroxylases, Child, Eye Proteins, Antihypertensive Agents, Glaucoma, Open-Angle, Intraocular Pressure, Glycoproteins
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