6. Nghiên cứu mối liên quan giữa kiểu gen CYP1B1 với kiểu hình ở bệnh nhân glôcôm bẩm sinh nguyên phát

Abstract

Primary congenital glaucoma occurs from an increase in the intraocular pressure because of developmental anomalies in the anterior eye segment, cause childhood blindness. It is an autosomal recessive inherited disease, point mutation is the most common in the CYP1B1 gene. The detection of mutations will be established the genotype - phenotype correlations is an important premise for treatment, prenatal diagnosis are effective solutions for prevent and reduce the incidence. The aim of this study is to establish the genotype - phenotype correlations of various CYP1B1 mutations with primary congenital glaucoma. 85 primary congenital glaucoma patients were analyzed, the result showed that there is a strong relationship between the patient’s disease stage and the CYP1B1 mutation, patients with severe disease are more likely to carry the mutation than mild and moderate patients. Corneal diameter and degree of opacity are the most important factors associated with genetic mutation status. Besides, when considering the relationship of the combination of clinical features with the mutation status of the CYP1B1 gene, the possibility of mutation is higher in the group carrying more co-factors such as the disease manifesting itself soon after birth, in both eyes and severe stage.