Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options

• Published in: Ophthalmic genetics Vol. 39; no. 2; pp. 149 - 157
• Main Authors: Hirji, Nashila, Aboshiha, Jonathan, Georgiou, Michalis, Bainbridge, James, Michaelides, Michel
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 04-03-2018
• Subjects: Achromatopsia; Animals; clinical trials; Color Vision Defects - diagnosis; Color Vision Defects - genetics; Color Vision Defects - therapy; cone; cone dysfunction syndrome; Disease Models, Animal; gene therapy; Genetic Therapy; Humans; Molecular Biology; cone dysfunction syndrome; gene therapy; clinical trials; Achromatopsia; cone
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2017.1418389

Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches. Finally, we discuss current human gene therapy trials.