20.500.12556/DiRROS-30725 Genetic background of high myopia in children Objective: High myopia is a significant risk factor for irreversible vision loss and can occur in isolation or as a component of various syndromes. However, the genetic basis of early-onset high myopia remains poorly understood. We aimed to identify the causative genetic variants for high myopia in a cohort of Slovenian children. Methods: The study included children referred to a tertiary paediatric ophthalmology centre at the University Eye Clinic in Ljubljana between 2010 and 2022. The participants met the following inclusion criteria: age ≤ 15 years and high myopia ≤-5.0 D before the age of 10 years. Genetic analysis included exome sequencing and/or molecular karyotyping. Participants were categorized based on clinical presentation: high myopia with systemic involvement, high myopia with ocular involvement, and isolated high myopia. Results: Genetic analysis of 36 probands revealed a genetic cause of high myopia in 22 (61.1%) children. Among those with systemic involvement (50.0%), genetic causes were identified in 13 out of 18 children, with Stickler's and Pitt-Hopkins being the most common syndromes. Among cases of high myopia with ocular involvement (38.9%), a genetic cause was found in 8 out of 14 probands, including (likely) pathogenic variants in genes related to retinal dystrophies (CACNA1F, RPGR, RP2, NDP). The non-syndromic ARR3- associated high myopia was identified in the isolated high myopia group. Conclusions: A genetic cause of high myopia was identified in 61.1% of children tested, demonstrating the value of genetic testing in this population for diagnosis and proactive counseling. high myopia child genetics visoka kratkovidnost otrok genetika true false true Angleški jezik Slovenski jezik Neznano 2026-07-01 12:57:19 2026-07-01 12:57:19 2026-07-03 03:46:47 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 14. 11. 2024; str. 1-13 iss. 11, [article no.] e0313121 Vol. 19 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 617.7-053.2 1932-6203 10.1371/journal.pone.0313121 215011587 RAZ_Senk_Urh_2024.pdf RAZ_Senk_Urh_2024.pdf 1 C5BDB900FC61664A124FE54E05CDA59E 3a3b43e26cb83d8c010bf5c3bf7bbf7519320383843fdb84ab23ee663a6b5abe dc33691d-75f1-11f1-a2b4-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=47025 https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0313121 1 a23f8eeb-753b-11f1-b0d9-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=46900 Univerzitetni klinični center Ljubljana 0 0 0