Investigating <i>OPTN</i> Gene Mutations of Low Vision (Glaucoma) in Two Khuzestan Families by WES Method

Background: Glaucoma has become one of the most common causes of irreversible blindness worldwide. From a pathophysiological and therapeutic point of view, intraocular pressure (IOP) is a major modifiable risk factor, as the disease usually does not progress if the IOP is reduced by 30% to 50%. Gene-based diagnostic tests can detect mutations that cause early-onset Mendelian glaucoma, allowing for the identification of affected individuals at an earlier stage of the disease when treatment is most beneficial. Objectives: The purpose of this study is to investigate mutations in genes involved in glaucoma disease by the next-generation sequencing (NGS) method in two families in Khuzestan province. Methods: DNA extraction from patients and parents was performed by the salting-out method. X100 exome sequencing was carried out using the modern NGS method. Exon number 8 of the OPTN gene was amplified by the PCR method, and in order to confirm the sequencing results, it was verified by the DNA sequencing method using a 3130XL sequencing machine. Results: In the first family, the patient was a 22-year-old boy, whose sequencing results of exon 8 of the OPTN gene indicated a heterozygous mutation in exon 8:c.T719A:p.L240Q. This mutation was also confirmed in the patient from the second family (the uncle of the first patient), who was 45 years old. Conclusions: Considering that NGS can evaluate several genes simultaneously, the use of this technique reduces the diagnostic time and helps in treating patients.