Akbas Ahsen Cavusoglu, Erdem Elif, Bozdogan Sevcan Tug, Harbiyeli Ibrahim Inan, Yagmur Meltem
Ophthalmology Department, Seyhan State Hospital, Adana, Türkiye.
Ophthalmology Department, Cukurova University Faculty of Medicine, Adana, Türkiye.
J Pediatr Genet. 2023 Sep 6;13(4):277-282. doi: 10.1055/s-0043-1774294. eCollection 2024 Dec.
The aim of this study was to investigate the and genes in patients with primary congenital glaucoma (PCG) from the Cukurova region (located in the south of Türkiye) and reveal the relationship between gene mutations and clinical severity of the disease. Molecular genetic and clinical study was conducted in 42 eyes of 26 patients who were followed for a diagnosis of PCG. The clinical diagnosis was concluded by ophthalmological examination under general anesthesia or slit-lamp biomicroscopy, gonioscopy, and measurement of the intraocular pressure. A gene mutation was detected in 12 patients (46.2%). Two of these patients had a combination of CYP1B1 and MYOC mutations. The most common pathogenic variant, c.1405C > T (p.R469W) ( = 5), was present in patients with mutations, and the prognosis was poor compared with other modifications ( = 0.014). The second most common variant was c.3987G > A (p.G61E) ( = 3), which was associated with a good prognosis. The incidence of buphthalmos and the mean horizontal corneal diameter were higher in patients with mutations in the and genes. All parents were found to be carriers of the mutation gene. This is the report on molecular genetic analysis of PCG in the southern region of Türkiye. Some specific genetic variants may have an effect on the prognosis of the disease. However, patients without mutations in these case groups may have mutations in genes yet to be identified.
本研究旨在调查来自屈库洛瓦地区（位于土耳其南部）的原发性先天性青光眼（PCG）患者的[基因名称1]和[基因名称2]基因，并揭示基因突变与疾病临床严重程度之间的关系。对26例诊断为PCG并接受随访的患者的42只眼睛进行了分子遗传学和临床研究。通过全身麻醉下的眼科检查或裂隙灯生物显微镜检查、前房角镜检查和眼压测量得出临床诊断。在12例患者（46.2%）中检测到[基因名称1]基因突变。其中2例患者存在CYP1B1和MYOC突变的组合。最常见的致病变异，即c.1405C＞T（p.R469W）（[病例数1]=5），出现在有突变的患者中，与其他变异相比预后较差（[P值1]=0.014）。第二常见的变异是c.3987G＞A（p.G61E）（[病例数2]=3），其与良好的预后相关。[基因名称1]和[基因名称2]基因发生突变的患者中眼球增大症的发生率和平均水平角膜直径更高。所有父母均被发现是突变基因的携带者。这是关于土耳其南部地区PCG分子遗传学分析的报告。一些特定的基因变异可能会对疾病的预后产生影响。然而，这些病例组中没有突变的患者可能在尚未确定的基因中存在突变。
