A Study On CYP1B1 Mutations In Chinese Han Patients With Primary Congenital Glaucoma

Chapter IPhenotypic Heterogeneity of Chinese Han Patients with Primary Congenital GlaucomaPURPOSE: To summarize the phenotypic features of Chinese Han patients with primary congenital glaucoma (PCG) and to investigate the discrepancies of the phenotypic features between the Chinese and Indian patients. METHODS: Clinical records of 44 Chinese Han primary congenital glaucoma patients were reviewed. The phenotypic features were summarized as several quantifiable clinical parameters and the severity of the disease was evaluated. Both the quantified clinical features and disease severity were statistically compared with those of the Indian patients' which were cited from the previous published articles.RESULTS: 44 Chinese and 43 Indian patients were included in the study. For the Chinese patients, male to female ratio was about 1.75:1, family history of primary congenital glaucoma was present in 3 patients (7%) and consanguinity was found in one patient (2.3%). Main symptoms and signs observed in Chinese patients spanned a wide spectrum of manifestations. The most frequent signs noted on the initial examination were enlarged eyeball (42.5%) and decreased visual acuity (35%). Compared with the Indian patients, the Chinese patients had a later onset, a delayed diagnosis , more severe corneal changes and more severe optic nerve damages(p<0.01). The combined trabeculectomy and trabeculotomy operation was preferred by both Chinese and Indian doctors whereas a higher proportion of Indian patients received the combined operation (p<0.01). The proportions of the severity...