Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Br J Ophthalmol. 2012 Nov;96(11):1372-7. doi: 10.1136/bjophthalmol-2012-301517. Epub 2012 Sep 1.
To investigate the clinical manifestations associated with the mutation spectrums of the human cytochrome P450 (CYP1B1) and myocilin (MYOC) genes in South Korean patients with primary congenital glaucoma (PCG).
Eighty-five unrelated PCG patients and their family members of South Korean origin were screened for mutations in the CYP1B1 and MYOC genes by sequencing with the PCR. We analysed phenotypes related to the presence, number and types of CYP1B1 mutations. In addition, the phenotype associated with the MYOC gene mutations was evaluated.
There was no statistically significant difference in clinical studies between PCG patients with CYP1B1 mutations (N=63) and those without mutations (N=22), although the mutation group manifested disease earlier, with greater severity, and frequency in both eyes (p>0.05). However, the response to treatments was statistically different between groups and tended to be poor according to the number of mutant alleles (p=0.000, 0.0017). Patients with MYOC mutations (N=2) showed various phenotypic features.
No consistent correlation was observed between the initial clinical manifestations and the CYP1B1 genotype. However, the response to treatment was associated with the CYP1B1 mutant alleles. This is the first report discussing the phenotypes of South Korean PCG patients associated with CYP1B1 mutations.
研究人类细胞色素 P450（CYP1B1）和肌球蛋白（MYOC）基因突变谱与韩国原发性先天性青光眼（PCG）患者临床表型的相关性。
采用 PCR 测序法对 85 例无亲缘关系的韩国原发性先天性青光眼患者及其家系成员 CYP1B1 和 MYOC 基因进行突变筛查。分析 CYP1B1 基因突变的存在、数量和类型与表型的关系。此外，还评估了与 MYOC 基因突变相关的表型。
虽然突变组疾病发病更早，双眼病变更严重且更频繁（p＞0.05），但 CYP1B1 基因突变组（N=63）与无突变组（N=22）的临床研究无统计学差异。然而，根据突变等位基因的数量，两组之间的治疗反应存在统计学差异，且治疗反应趋于较差（p=0.000，0.0017）。携带 MYOC 基因突变的患者（N=2）表现出不同的表型特征。
初始临床表型与 CYP1B1 基因型之间未观察到一致的相关性。然而，治疗反应与 CYP1B1 突变等位基因相关。这是首次报道探讨 CYP1B1 基因突变与韩国原发性先天性青光眼患者表型的关系。
