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Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy |
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| Authors: | Danial Roshandel Jennifer A. Thompson Jason Charng Dan Zhang Enid Chelva Sukanya Arunachalam |
| Affiliation: | 1. Centre for Ophthalmology and Visual Science, The University of Western Australia , Perth, Australia;2. Ocular Tissue Engineering Laboratory, Lions Eye Institute , Nedlands, Australia !["ORCID]({"type":"image","src":"/templates/jsp/images/orcid.png"} "\"ORCID") https://orcid.org/0000-0002-6716-6406;3. Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital , Nedlands, Australia;4. Ocular Tissue Engineering Laboratory, Lions Eye Institute , Nedlands, Australia |
| Abstract: | ABSTRACT BackgroundMutations in the splicing factor pre-messenger RNA processing factor 31 (PRPF31) gene cause autosomal dominant retinitis pigmentosa 11 (RP11) through a haplo-insufficiency mechanism. We describe the phenotype and progression of microperimetry and autofluorescence endpoints in an Indigenous Australian RP11 family. |
| Keywords: | Retinitis pigmentosa PRPF31 RP11 non-penetrance Indigenous Australian |