investigating optn 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.