The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease.

Autor: De Bruyn H; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA., Johnson M; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Moretti M; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Ahmed S; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Mujat M; Physical Sciences, Inc., 20 New England Business Center, Andover, MA 01810, USA., Akula JD; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA., Glavan T; Department of Molecular Medicine and Biotechnology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia., Mihalek I; Department of Molecular Medicine and Biotechnology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia., Aslaksen S; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Department of Clinical Science, University of Bergen, 5007 Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, 5009 Bergen, Norway., Molday LL; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Molday RS; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Berkowitz BA; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.
Jazyk: angličtina
Zdroj: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2024 Jul 17; Vol. 14 (14). Date of Electronic Publication: 2024 Jul 17.
DOI: 10.3390/diagnostics14141545
Abstrakt: 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.
Databáze: MEDLINE
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