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Whole exome sequencing and copy number variation analysis were performed, followed by validation and pathogenicity classification of the detected variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The overall genetic diagnostic rate was 60.5%. Twenty\u2010eight unique genetic variants of <jats:italic>MFRP<\/jats:italic>, <jats:italic>PRSS56<\/jats:italic>, and <jats:italic>MYRF<\/jats:italic> have been identified, of which 19 were reported for the first time. The c.1486G&gt;A variant in <jats:italic>MFRP<\/jats:italic> and the c.1066dupC variant in <jats:italic>PRSS56<\/jats:italic> were the two most frequent variants. Patients with variants in <jats:italic>MFRP<\/jats:italic> or <jats:italic>PRSS56<\/jats:italic> tended to possess shorter axial lengths than those with <jats:italic>MYRF<\/jats:italic> variants. Among patients with <jats:italic>MFRP<\/jats:italic> null variants, a higher proportion developed uveal effusion syndrome (UES) than did those without null variants, whereas among patients with <jats:italic>PRSS56<\/jats:italic> null variants, a greater number of patients developed angle\u2010closure glaucoma (ACG). A higher proportion of <jats:italic>MFRP<\/jats:italic>\u2010related NO patients developed both UES and ACG.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>MFRP, PRSS56<\/jats:italic>, and <jats:italic>MYRF<\/jats:italic> account for the majority of genetic causes of NO. <jats:italic>MFRP<\/jats:italic>\u2010related NO patients tend to exhibit a strong predisposition to complications. Null variants in <jats:italic>MFRP<\/jats:italic> and <jats:italic>PRSS56<\/jats:italic> may increase susceptibility to clinical complications. This study provides insights into the genetic landscape and clinical characteristics of NO. These findings will lead to a better understanding of the mechanisms underlying nanophthalmos and other diseases associated with eye development.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ceo.14465","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T12:59:10Z","timestamp":1732193950000},"page":"194-208","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp><i>MFRP<\/i><\/scp>, <scp><i>PRSS56<\/i><\/scp>, and <scp><i>MYRF<\/i><\/scp> account for 60.5% of a Chinese cohort with nanophthalmos"],"prefix":"10.1111","volume":"53","author":[{"given":"Jing","family":"Tao","sequence":"first","affiliation":[{"name":"Beijing Tongren Eye Center, Beijing Tongren Hospital Capital Medical University  Beijing 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