原发先天性青光眼患者cyp1b1基因筛查和变异研究-study on cyp1b1 gene screening and variation in patients with primary congenital glaucoma.docxVIP

广州医学院硕士学位论文原发先天性青光眼患者 广州医学院硕士学位论文 原发先天性青光眼患者 CYP1B1 基因筛查和变异研究 6 6 The Mutations Research of CYP1B1 Gene for Primary Congenital Glaucoma in Guangdong Province Background: Glaucoma is the second largest blinding eye disease, involving the worlds six thousand seven million people, 10% of patients with bilateral blindness. Blinding Glaucoma is the main reason for Chinese adults. Glaucoma can be classified according to etiology of primary and secondary glaucoma. According to diffierent etiology, glaucoma can be divided into primary glaucoma and secondary glaucoma. There are three types of primary glaucoma: primary congenital glaucoma, primary open angle glaucoma and primary angle-closure glaucoma. Primary congenital glaucoma (primary congenital glaucoma, PCG) is a good fat in infants and young children inherited cause of blindness, congenital glaucoma is the most common type of male and female incidence rate ratio of about 2:1, more distributed, the treatment less effective, and ultimately lead to the optic nerve damage and atrophy or even blindness, can not see again. More involvement of both eyes simultaneously or successively. Primary congenital glaucoma is characterized by a marked increase of intraocular pressure at birth or early childhood（less than 3 years old）, large ocular globes (buphthalmos), corneal edema, and Haab’s striae. It is associated with developmental defects in the trabecular meshwork of anterior chamber angle，PCG is the most common childhood glaucoma, which is observed in the neonatal or infantile period, and is an important cause of visual loss in children. The incidence ratio is approximately 1 in 30,000 within live births. IOP is a risk of PCG. it is also called Buphthalmos. The exclusion of other ocular or systemic anomalies, buphthalmos can be one of the basis diagnosis of PCG . When one children occurs with corneal diameter 12mm or corneal edema, and Haab’s striae, intraocular pressure 2lmmHg or increasing the ratio of cup / disc, and