An optometrist's guide to the top candidate inherited retinal diseases for gene therapy
| Autor: | Thomas L Edwards, Zhengyang Liu, Lauren N Ayton, Jiang-Hui Wang, Monica L Hu, Alexis Ceecee Zhang, Fleur O'Hare, Doron G. Hickey |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Optometrists Genetic enhancement Leber Congenital Amaurosis Choroideremia Retina Orphan drug 03 medical and health sciences 0302 clinical medicine Retinal Diseases parasitic diseases Retinitis pigmentosa medicine Humans Medical diagnosis Intensive care medicine business.industry Genetic Therapy medicine.disease Clinical trial Stargardt disease Ophthalmology 030221 ophthalmology & optometry Candidacy ATP-Binding Cassette Transporters business 030217 neurology & neurosurgery Optometry |
| Zdroj: | Clinicalexperimental optometry. 104(4) |
| ISSN: | 1444-0938 |
| Popis: | This review presents the phenotypic and genotypic profiles of a select group of inherited retinal diseases (IRDs) that are currently the focus of retinal gene therapy trials globally. Research progress in IRD treatment trials may soon lead to their availability in Australia and New Zealand, as either approved treatment or a clinical trial. The salient clinical characteristics of retinitis pigmentosa-the largest IRD category-are highlighted, with specific reference to RPE65-associated Leber congenital amaurosis, followed by other specific IRDs, namely choroideremia and ABCA4-associated Stargardt disease. These IRDs are selected based on their candidacy for gene therapy. Guidance on the clinical diagnostic tests that support each of these diagnoses will be presented. More broadly, the most useful structure and function measures to monitor IRD progression is discussed, along with the key assessments that offer differential diagnostic insight. This review is intended to be a clinical guide for optometrists, to assist in assessment and management of individuals who may be eligible for current and future gene therapies. A companion article in this issue will provide an overview of the basic principles of gene therapy and its development as a new treatment for inherited retinal diseases. |
| Databáze: | OpenAIRE |
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