| Naslov: | Genetic background of high myopia in children |
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| Avtorji: | ID Šenk, Urh (Avtor)
ID Čižman, Bernard (Avtor)
ID Writzl, Karin (Avtor)
ID Tekavčič Pompe, Manca (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (606,76 KB)
MD5: C5BDB900FC61664A124FE54E05CDA59E
 URL - Izvorni URL, za dostop obiščite https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0313121
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | 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. |
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| Ključne besede: | high myopia, child, genetics |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2024 |
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| Št. strani: | str. 1-13 |
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| Številčenje: | Vol. 19, iss. 11, [article no.] e0313121 |
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| PID: | 20.500.12556/DiRROS-30725  |
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| UDK: | 617.7-053.2 |
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| ISSN pri članku: | 1932-6203 |
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| DOI: | 10.1371/journal.pone.0313121 |
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| COBISS.SI-ID: | 215011587 |
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| Opomba: |
Nasl. z nasl. zaslona;
Opis vira z dne 14. 11. 2024;
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| Datum objave v DiRROS: | 01.07.2026 |
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| Število ogledov: | 121 |
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| Število prenosov: | 84 |
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| Metapodatki: |    |
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