Yazdani Shahin, Miraftabi Arezoo, Pakravan Mohammad, Ghahari Elham, Tousi Betsabeh K, Sedigh Massih, Yaseri Mehdi, Elahi Elahe
*Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences †Eye Research Center, Iran University of Medical Sciences ‡School of Biology, University College of Science ∥Department of Biotechnology ¶Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science §Department of Biostatistics and Epidemiology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
J Glaucoma. 2016 Jan;25(1):33-8. doi: 10.1097/IJG.0000000000000206.
To explore the correlation between clinical manifestations of primary congenital glaucoma (PCG) and CYP1B1 mutations.
A clinical and molecular genetic study was performed on a cohort of 17 patients with PCG and known CYP1B1 mutation profile including 10 subjects with and 7 cases without mutations. Ophthalmolgical records were reviewed and phenotype which was defined by age at onset, presenting intraocular pressure (IOP), corneal diameter, and vertical cup to disc ratio, and the number of procedures was correlated with the presence or absence of CYP1B1 mutations.
Overall, 8 mutations were identified in 10 patients. The disease became manifest earlier than 1 month of age in 9 of 10 (90%) cases with, as compared with 2 of 7 (28.6%) patients without mutations (P=0.035). Baseline IOP was 29.3±6.5 mm Hg in the mutation-positive group versus 17.6±3.7 mm Hg in subjects without mutations (P<0.001). Patients with mutations also had significantly higher IOP throughout follow-up (P<0.002). The number of operations was significantly higher in subjects with mutations (3.3±1.8 vs. 1.8±1.5 procedures, P=0.025). Six patients (60%) with mutations were female as compared with 1 subject (14.3%) in the nonmutation group (P=0.134). There was no significant difference between the study groups in terms of corneal diameter (P=0.475) and vertical cup to disc ratio (P=0.794).
PCG patients with CYP1B1 mutations seem to have earlier onset disease, display more severe manifestations, and require more operations as compared with subjects without such mutations. These findings may have implications in prognosticating the disease and genetic counseling.
探讨原发性先天性青光眼（PCG）的临床表现与CYP1B1基因突变之间的相关性。
对17例已知CYP1B1突变谱的PCG患者进行了临床和分子遗传学研究，其中10例有突变，7例无突变。回顾眼科记录，将由发病年龄、就诊时眼压（IOP）、角膜直径、垂直杯盘比定义的表型以及手术次数与CYP1B1突变的有无进行关联分析。
总体而言，10例患者中鉴定出8种突变。10例中有9例（90%）突变患者的疾病在1月龄前出现，而7例无突变患者中只有2例（28.6%）在1月龄前发病（P=0.035）。突变阳性组的基线眼压为29.3±6.5 mmHg，无突变患者为17.6±3.7 mmHg（P<0.001）。在整个随访过程中，有突变的患者眼压也显著更高（P<0.002）。有突变的患者手术次数显著更多（3.3±1.8次 vs. 1.8±1.5次手术，P=0.025）。有突变的患者中有6例（60%）为女性，无突变组为1例（14.3%）（P=0.134）。研究组之间在角膜直径（P=0.475）和垂直杯盘比（P=0.794）方面无显著差异。
与无CYP1B1突变的患者相比，有该突变的PCG患者似乎发病更早，表现更严重，且需要更多手术。这些发现可能对疾病的预后评估和遗传咨询有意义。
