Molecular genetic analysis of cases with primary congenital glaucoma in Cukurova region

Purpose: To investigate the genetic basis of PCG in Cukurova region, revealing the relationship between the detected gene mutations and the clinical findings and severity of the disease. Materials and Methods: 42 eyes of 26 patients who were followed up with the diagnosis of primary congenital glaucoma in Cukurova University Department of Ophtalmology between 2005 and 2021 were included in the study. Venous blood samples taken for genetic analysis were taken into tubes containing ethylenediaminetetra acetic acid and analyzed in ukurova University Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics Department. CYP1B1, MYOC gene mutations were investigated in blood samples. Genetic analysis was performed by taking blood samples from the parents of the patients with mutations. Results: The presence of CYP1B1 gene mutation was detected in 12 (46.2 %) (20 eyes) patients (Group 1). Two of these patients had a combination of CYP1B1 and MYOC gene mutations. No mutation was observes in 14 (53.8 %) patients (22 eyes) (Group 2). There was no difference in demographic data between the two groups (p:> 0,05). Horizontal corneal diamater was higher in Group 1 cases with mutation (p: 0,006). At the same time, the incidence of buphtalmus was higher (p: 0,057). The most common pathogenic variant c.1405C>T (p.R469W) (n: 5, 9 eyes) was present in cases with mutations and the prognosis was poor compared to other mutations (p: 0,014). The second most common variant was c.3987G>A (p.G61E) (n:3, 4 eyes), with good prognosis with treatment. Conclusion: In this study, it was observed that genetic mutations, which are common in primary congenital glaucoma cases, are associated with the clinical severity of the disease. Gecetic research can be a guide in terms of clinical prognosis in these patients. In addition, genetic counseling services to families can reduce the incidence of the disease. Keywords:, CYP1B1, Genetic Analysis, MYOC, Primary Congenital Glaucoma