Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/130601
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Type: | Journal article |
Title: | Multimodal retinal imaging and microperimetry reveal a novel phenotype and potential trial end points in CRB1-associated retinopathies |
Author: | Roshandel, D. Thompson, J.A. Heath Jeffery, R.C. Sampson, D.M. Chelva, E. Mc Laren, T.L. Lamey, T.M. De Roach, J.N. Durkin, S.R. Chen, F.K. |
Citation: | Translational Vision Science and Technology, 2021; 10(2):1-17 |
Publisher: | Association for Research in Vision and Ophthalmology |
Issue Date: | 2021 |
ISSN: | 2164-2591 2164-2591 |
Statement of Responsibility: | Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Danuta M. Sampson, Enid Chelva; Terri L. McLaren ... et al. |
Abstract: | Purpose: Biallelic crumbs cell polarity complex component 1 (CRB1) mutations can present as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or cystic maculopathy. This study reports a novel phenotype of asymptomatic fenestrated slit maculopathy (AFSM) and examines macular volume profile and microperimetry as clinical trial end points in CRB1-associated retinopathies. Methods: Twelve patients from nine families with CRB1 mutation were recruited. Ultra-widefield (UWF) color fundus photography and autofluorescence (AF), spectral-domain optical coherence tomography (SD-OCT), microperimetry, and adaptive optics (AO) imaging were performed. Macular volume profiles were compared with age-matched healthy controls. Genotyping was performed using APEX genotyping microarrays, targeted next-generation sequencing, and Sanger sequencing. Results: We identified one patient with LCA, five patients with RP, and four patients with macular dystrophy (MD) with biallelic CRB1 mutations. Two siblings with compound heterozygote genotype (c.[2843G>A]; [498_506del]) had AFSM characterized by localized outer retinal disruption on SD-OCT and parafoveal cone loss on AO imaging despite normal fundus appearance, visual acuity, and foveal sensitivity. UWF AF demonstrated preserved para-arteriolar retinal pigment epithelium (PPRPE) in all patients with RP. Microperimetry documented preserved central retinal function in six patients. The ratio of perifoveal-to-foveal retinal volume was greater than controls in 89% (8/9) of patients with RP or MD, whereas central subfield and total macular volume were outside normal limits in 67% (6/9). Conclusions: AO imaging was helpful in detecting parafoveal cone loss in asymptomatic patients. Macular volume profile and microperimetry parameters may have utility as CRB1 trials end points. Translational Relevance: Macular volume and sensitivity can be used as structural and functional end points for trials on CRB1-associated RP and MD. |
Keywords: | Retina Humans Retinitis Pigmentosa Eye Proteins Membrane Proteins Nerve Tissue Proteins Phenotype Visual Field Tests |
Rights: | Copyright 2021 The Authors This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. |
DOI: | 10.1167/tvst.10.2.38 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/116360 http://purl.org/au-research/grants/nhmrc/1054712 http://purl.org/au-research/grants/nhmrc/1188694 |
Published version: | http://dx.doi.org/10.1167/tvst.10.2.38 |
Appears in Collections: | Aurora harvest 4 Opthalmology & Visual Sciences publications |
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hdl_130601.pdf | 7.19 MB | Adobe PDF | View/Open |
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