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Updated: Jun 8, 2025
Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
Genetic background of high myopia in children
Urh Šenk1, Bernard Čižman1, Karin Writzl1,2
1Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Insights
Genetic testing identified the cause of high myopia in 61.1% of Slovenian children. This research highlights the importance of genetic analysis for early-onset high myopia diagnosis and family counseling.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- High myopia is a major cause of irreversible vision loss.
- The genetic underpinnings of early-onset high myopia are not well understood.
- Identifying genetic causes is crucial for understanding disease mechanisms and progression.
Purpose of the Study:
- To identify causative genetic variants in Slovenian children with early-onset high myopia.
- To investigate the genetic basis across different clinical presentations of high myopia.
Main Methods:
- Recruited 36 pediatric patients with high myopia (≤-5.0 D before age 10).
- Employed exome sequencing and/or molecular karyotyping for genetic analysis.
- Classified participants into high myopia with systemic involvement, ocular involvement, or isolated high myopia.
Main Results:
- A genetic cause was found in 61.1% (22/36) of the children.
- In systemic cases, Stickler's and Pitt-Hopkins syndromes were common.
- Pathogenic variants in retinal dystrophy genes (e.g., CACNA1F, RPGR) were identified in ocular cases.
- Non-syndromic high myopia associated with ARR3 was found in isolated cases.
Conclusions:
- Genetic testing successfully identified the cause of high myopia in a majority of pediatric cases.
- Genetic insights aid in diagnosis and enable proactive genetic counseling for affected families.
- This study underscores the utility of genetic testing in managing early-onset high myopia.
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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