| Abstract [eng] |
Summary. Myopia is one of the most common refractive errors worldwide, and its prevalence continues to rise, with an estimated 50 % of the global population to be myopic by 2050 and approximately 10 % by high myopia. High myopia carries a risk of sight-threatening complications such as myopic maculopathy, retinal detachment and glaucoma. A better understanding of the hereditary and genetic basis of myopia is therefore directly relevant to screening, counselling and the development of targeted preventive and therapeutic strategies. Aim and Objectives. The aim of this literature review was to summarize the current evidence on the heritability of myopia and to identify genes and signaling pathways that may contribute to its development. A secondary objective was to evaluate the potential preventive and therapeutic implications of these findings. Methods. A structured narrative literature review was performed. PubMed served as the primary database, using Medical Subject Headings combining "Myopia" with "Genetic Predisposition to Disease", "Genome-Wide Association Study" and "Quantitative Trait Loci" (Boolean operators AND and OR). Eligibility was restricted to peer-reviewed original research published in English or German between January 2015 and March 2026. Included study designs were family studies, twin studies, genome-wide association studies and rare variant analyses. Titles, abstracts and full texts were screened against predefined inclusion criteria. Included studies were synthesized qualitatively using a thematic approach. Results. Thirteen studies were included (four family studies, two twin studies, one rare variant association study and six genome-wide association studies), covering more than 1.2 million participants of European, East Asian, South Asian, Hispanic and African-American background. Family studies consistently demonstrated a dose-dependent association between parental and childhood myopia. Twin studies reported heritability estimates for refractive error and axial length ranging from approximately 60 % to 90 %. GWAS and rare variant analyses point to core pathways, including retinal signaling and phototransduction, glutamatergic and dopaminergic neurotransmission, extracellular matrix remodeling and TGF-β/BMP signaling and WNT pathway. Polygenic risk scores reached an AUC of 77% but did not match accuracy of cycloplegic refraction. Several candidate drug targets were identified, most notably EFEMP1 and ANGPT1. Conclusions. Myopia is a heritable, polygenic additive condition whose phenotypic variation is modulated by environmental factors, in particular educational exposure and near-work. Children with a positive family history benefit from early refractive screening and lifestyle counselling. Future research should prioritize integrative approaches, diversification of cohorts and the experimental investigation of drug targets. |
