Contributions of MYOC and CYP1B1 mutations to JOAG.

摘要: Purpose: To investigate the role of MYOC and CYP1B1 in Iranian juvenile open angle glaucoma (JOAG) patients. Methods: Twenty-three JOAG probands, their available affected unaffected family members, 100 ethnically matched control individuals without history ocular disease were recruited. Clinical examinations probands included slit lamp biomicroscopy, intraocular pressure (IOP) measurement, gonioscopic evaluation, fundus examination, perimetry measurement. Familial cases classified according to mode inheritance. Exons sequenced, novel variations assessed individuals. Potential disease-associated tested for segregation with status members. Results: The inheritance families four (17.4%) appeared be autosomal dominant at least eight (34.8%) recessive. Four patients carried mutations, an equal number mutations. mutations heterozygous; two them (p.C8X p.L334P) are novel, one codes shortest truncated protein so far reported. Autosomal recessive was consistent observed carrying All these homozygous Conclusions: contributed equally studied. contribution genes independent that no patient both genes. fraction comparable previously reported populations.