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The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease De Bruyn, Hanna; Johnson, Megan; Moretti, Madelyn; Ahmed, Saleh; Mujat, Mircea; Akula, James D.; Glavan, Tomislav; Mihalek, Ivana; Aslaksen, Sigrid; Molday, Laurie L.; Molday, Robert S.; Berkowitz, Bruce A.; Fulton, Anne B.

Abstract

Stargardt disease (STGD1), associated with biallelic variants in the ABCA4 gene, is the most common heritable macular dystrophy and is currently untreatable. To identify potential treatment targets, we characterized surviving STGD1 photoreceptors. We used clinical data to identify macular regions with surviving STGD1 photoreceptors. We compared the hyperreflective bands in the optical coherence tomographic (OCT) images that correspond to structures in the STGD1 photoreceptor inner segments to those in controls. We used adaptive optics scanning light ophthalmoscopy (AO-SLO) to study the distribution of cones and AO-OCT to evaluate the interface of photoreceptors and retinal pigment epithelium (RPE). We found that the profile of the hyperreflective bands differed dramatically between patients with STGD1 and controls. AO-SLOs showed patches in which cone densities were similar to those in healthy retinas and others in which the cone population was sparse. In regions replete with cones, there was no debris at the photoreceptor-RPE interface. In regions with sparse cones, there was abundant debris. Our results raise the possibility that pharmaceutical means may protect surviving photoreceptors and so mitigate vision loss in patients with STGD1.

Item Metadata

Title
The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease
Creator
De Bruyn, Hanna; Johnson, Megan; Moretti, Madelyn; Ahmed, Saleh; Mujat, Mircea; Akula, James D.; Glavan, Tomislav; Mihalek, Ivana; Aslaksen, Sigrid; Molday, Laurie L.; Molday, Robert S.; Berkowitz, Bruce A.; Fulton, Anne B.
Publisher
Multidisciplinary Digital Publishing Institute
Date Issued
2024-07-17
Description
Stargardt disease (STGD1), associated with biallelic variants in the ABCA4 gene, is the most common heritable macular dystrophy and is currently untreatable. To identify potential treatment targets, we characterized surviving STGD1 photoreceptors. We used clinical data to identify macular regions with surviving STGD1 photoreceptors. We compared the hyperreflective bands in the optical coherence tomographic (OCT) images that correspond to structures in the STGD1 photoreceptor inner segments to those in controls. We used adaptive optics scanning light ophthalmoscopy (AO-SLO) to study the distribution of cones and AO-OCT to evaluate the interface of photoreceptors and retinal pigment epithelium (RPE). We found that the profile of the hyperreflective bands differed dramatically between patients with STGD1 and controls. AO-SLOs showed patches in which cone densities were similar to those in healthy retinas and others in which the cone population was sparse. In regions replete with cones, there was no debris at the photoreceptor-RPE interface. In regions with sparse cones, there was abundant debris. Our results raise the possibility that pharmaceutical means may protect surviving photoreceptors and so mitigate vision loss in patients with STGD1.
Subject
Stargardt disease; photoreceptors; mitochondria; optical coherence tomography adaptive optics; inherited retinal disease; retinal imaging; retina
Genre
Article
Type
Text
Language
eng
Date Available
2024-08-01
Provider
Vancouver : University of British Columbia Library
Rights
CC BY 4.0
DOI
10.14288/1.0444957
URI
http://hdl.handle.net/2429/88826
Affiliation
Medicine, Faculty of; Non UBC; Biochemistry and Molecular Biology, Department of
Citation
Diagnostics 14 (14): 1545 (2024)
Publisher DOI
10.3390/diagnostics14141545
Peer Review Status
Reviewed
Scholarly Level
Faculty; Researcher
Rights URI
https://creativecommons.org/licenses/by/4.0/
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DSpace

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CC BY 4.0