Hirji, N;
Aboshiha, J;
Georgiou, M;
Bainbridge, J;
Michaelides, M;
(2018)
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
Ophthalmic Genetics
, 39
(2)
pp. 149-157.
10.1080/13816810.2017.1418389.
Preview |
Text
Bainbridge_ACHM review v4 FINAL.pdf - Accepted Version Download (393kB) | Preview |
Abstract
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.
| Type: | Article |
|---|---|
| Title: | Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1080/13816810.2017.1418389 |
| Publisher version: | https://doi.org/10.1080/13816810.2017.1418389 |
| Language: | English |
| Additional information: | Achromatopsia, clinical trials, cone, cone dysfunction syndrome, gene therapy |
| Keywords: | Achromatopsia, clinical trials, cone, cone dysfunction syndrome, gene therapy |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10042262 |
Archive Staff Only
 |
View Item |
