Objective To identify genes associated with juvenile open-angle glaucoma (JOAG) by screening for gene mutation loci and clinical phenotype analysis in a JOAG family. Methods In January 2021, an ophthalmic examination was performed on members of a family with JOAG. Whole-exome sequencing was done on the proband to look for pathogenic genes. Family members were validated using Sanger sequencing, and a long-term follow-up was conducted. Results Three generations of the family comprised eight individuals, including three patients with JOAG. All patients carried a missense mutation in the MYOC gene c.1130C>G (p.Thr377Arg), which showed autosomal dominant inheritance. Other unaffected family members were not found to have the mutation. Conclusion The c.1130C>G (p.Thr377Arg) mutation in the MYOC gene may be responsible for the pathogenesis of this JOAG family.
