Inherited Ocular Developmental Disease

• Published in: Acta ophthalmologica (Oxford, England) England), 2011-09, Vol.89 (s248), p.0-0
• Main Author: BLACK, GCM
• Format: Article
• Language: English
• Subjects: Anophthalmia; Cataracts; Children; Congenital diseases; Cornea; Developmental disabilities; Diagnosis; Eye disorders; Genetic screening; Microphthalmia; Next-generation sequencing; Retina
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/j.1755-3768.2011.2323.x

Purpose High throughput technologies offer considerable opportunities to understand the genetic basis of developmental ocular disorders, both common and rare. This presentation will provide an overview of recent progress illustrated with specific examples including early‐onset corneal, cataract and retinal disorders. Methods A review, including case presentations, to illustrate insights into genes underlying developmental ocular disorders including the understanding of novel pathways underlying common and rare developmental disorders and the utility in clinical practice of high throughput technologies including next generation sequencing. Results Although individually rare, the group of developmental ocular disorders are an important contributor to childhood visual disability. Many of the issues regarding diagnosis and counselling apply to the entire group allowing the development of a unified care pathway. An important challenge is to improve diagnosis. Currently diagnostic genetic testing still focuses on single genes; this will be illustrated for ocular conditions such as brittle cornea syndrome (ZNF469, PRDM5) and Lenz microphthalmia syndromes (BOCR). Future prospects will employ high throughput technologies (e.g. next generation sequencing, microarray analysis). Examples will include inherited congenital cataract phenoptyes. Conclusion The recent identification of genes underlying disorders of the anophthalmia/microphthalmia spectrum, of corneal development and of congenital cataract sheds light on the pathways and processes underlying a range of the biological processes underlying ocular development. Their identification has a direct bearing on clinical management, allowing the development of individualised care pathways.