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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
Statement of
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
Retinitis Pigmentosa
Eye Proteins
Membrane Proteins
Nerve Tissue Proteins
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
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Opthalmology & Visual Sciences publications

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