Genetic changes and testing associated with childhood glaucoma: A systematic review

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Childhood glaucoma is often linked to genetic factors, with numerous gene variants identified.
• Current genetic testing practices for pediatric glaucoma are inconsistent due to a lack of standardized guidelines.

Purpose of the Study:

• To systematically review and summarize the literature on genetic changes associated with childhood glaucoma.
• To analyze current genetic testing practices and identify common genes and genotype-phenotype correlations.

Main Methods:

• A systematic review adhering to PRISMA 2020 guidelines was conducted.
• Searches of PubMed, Embase, and Cochrane databases were performed using specific keywords related to glaucoma, childhood, and genetics.
• Data extraction included genetic variants, genotype-phenotype correlations, and risk of bias assessment using the Newcastle-Ottawa Scale.

Main Results:

• 196 studies met inclusion criteria, discussing 53 different genes.
• CYP1B1 was the most frequently discussed gene (55.6% of studies), with variants showing region-specific prevalence from 5% to 86%.
• MYOC and FOXC1 variants were also significant, with prevalence up to 36% and genotype-phenotype correlations noted, respectively. Risk of bias was generally low.

Conclusions:

• Numerous genes and genetic alterations are implicated in childhood glaucoma.
• Understanding prevalent genes and genotype-phenotype relationships can enhance diagnostic accuracy and prognostic predictions for affected children.