Genetic background of high myopia in children

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.