Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders

• Main Authors: Mahavir Singh, Suresh C Tyagi
• Format: Article
• Language: English
• Published: Press of International Journal of Ophthalmology (IJO PRESS) 2018-01-01
• Series: International Journal of Ophthalmology
• Subjects: 134; CRISPR/Cas9 precision medicine; genetic ophthalmology; genome engineering; inflammation; single nucleotide polymorphism
• Online Access: http://www.ijo.cn/en_publish/2018/1/20180120.pdf

Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our eyes. Based on these findings, it is becoming clear that an early diagnosis employing genetic testing can help evaluate patients’ conditions for instituting treatment plan(s) and follow-up care to avoid vision complications later. For example, knowing family history becomes crucial for inherited eye diseases as it can benefit members in family who may have similar eye diseases or predispositions. Therefore, gathering information from an elaborate examination along with complete assessment of past medical illness by ophthalmologists followed by consultation with geneticists can help create a roadmap for making diagnosis and treatment precise and beneficial. In this review, we present an update on ocular genomic medicine that we believe has tremendous potential towards unraveling genetic implications in ocular diseases and patients’ susceptibilities. We also discuss translational aspects of genetic ophthalmology and genome engineering that may help advance molecular diagnostics and therapeutics.