Genetics and eye health: research advances and implications for primary eyecare

Ocular genetics research has seen tremendous growth in the last two decades. Understanding the genetic basis of eye diseases helps researchers comprehend their heritability, uncover disease mechanisms, and develop targeted gene therapies. This evolving knowledge is changing the clinical management of many eye conditions, from diagnostics and gene-based therapies for patients with previously untreatable monogenic eye diseases, to risk stratification and personalised management of complex conditions. Despite the limited role of genetics in primary eyecare today, the integration of genetics into optometry practice holds promise for enhancing patient outcomes. Optometrists, as primary eyecare practitioners, play a key role in detecting and managing eye conditions. Therefore, increased engagement from optometrists can assist in identifying patients with genetic eye conditions within the community, supporting shared care and multidisciplinary teams, enhancing participation in research and clinical trials, and providing ongoing monitoring and patient education. Integrating genetics into eyecare requires clinicians to have a clear understanding of the role of genetics in rare and common eye diseases, genomic literacy education for primary care practitioners, and multidisciplinary networks for improved communication and coordinated care. This review aims to provide an evidence-based update on recent advances in genetic technologies for eye diseases. It discusses current evidence on the role of genetics in monogenic and polygenic eye diseases, and examines the applications of genetics in eyecare, including diagnosis, risk stratification, and emerging treatments. Additionally, it highlights the role of primary eyecare professionals within a multidisciplinary approach.