Syndromic ophthalmic genetics

Purpose This presentation will provide an overview of recent scieitific progress in understanding multisystemic genetic ophthalmic disorders with specific examples including early‐onset developmental disorders as well as syndromic cataract and retinal disorders. Methods A review, including case presentations, to illustrate novel insights into pathways underlying common and rare syndromic ophthalmic disorders, the importance of recognising such disorders and the utility (and limitations) in clinical practice of high throughput technologies including next generation sequencing. Results Syndromic ocular disorders are an important contributor to childhood visual disability. There are many common issues regarding diagnosis and counselling apply to the entire group allowing the development of unified care pathways. An important challenge is to improve diagnosis since management of non‐ocular manifestations is likely key. While current diagnostic genetic testing still focuses on single genes, which will be illustrated through discussion of multisystemic retinal phenotypes such as bardet Biedl and Cohen syndromes, future prospects will employ high throughput technologies (e.g. next generation sequencing, microarray analysis) to enable efficient diagnosis of poorly recognised conditions (eg CTX, ocular auricular syndrome, mitochondial cytopathies) Conclusion The continued and accelerated identification of genes underlying syndromic disorders associated with microphthalmia; corneal and lens developmental abnormalities or retinal dystrophies sheds light on the underlying pathways. Their identification has a direct bearing on clinical management, allowing the improvement and development of individualised care pathways.