Results 1 to 10 of about 687 (125)

Impact of Dietary Antioxidant Supplements on Atrophic Lesion Progression in Stargardt Disease: A Retrospective Observational Study [PDF]

Journal of Ophthalmology
Conclusion: Supplementation with dietary antioxidants did not result in a slower progression rate of DAF lesions in STGD1. Further investigation with randomized trials is needed for evidence-based use of antioxidant supplements for the disease.
Christopher A. Turski, Michalis Georgiou, Cesar Estrada Puente, Kubra Sarici, Xiao Zhou, Ramiro S. Maldonado   +5 more
doaj   +3 more sources

Rescue of the Stargardt Disease Phenotype in Abca4 Knockout Mice Through Dietary Modulation of the Vitamin A Receptor RBPR2 [PDF]

FASEB BioAdvances
Mutations in the ABCA4 gene in Stargardt disease (STGD1) cause enhanced accumulation of cytotoxic lipofuscin, manifesting in RPE atrophy and photoreceptor dysfunction.
Rakesh Radhakrishnan, Matthias Leung, Drew Yochim, Heidi Roehrich, Scott W. McPherson, Glenn P. Lobo   +5 more
doaj   +3 more sources

Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration

Cells, 2022
Recessive Stargardt disease (STGD1) is an inherited retinopathy caused by mutations in the ABCA4 gene. The ABCA4 protein is a phospholipid-retinoid flippase in the outer segments of photoreceptors and the internal membranes of retinal pigment epithelial (
Michael B Gorin, Roxana A Radu, Anna Matynia   +2 more
exaly   +3 more sources

Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease

Ophthalmic Research
Background: Stargardt disease (STGD1) due to biallelic mutations in the ABCA4 gene is the most frequent single-gene retinal disease with a genetic prevalence of about 1 in 7,000.
Nathan L. Mata, Stephanie Weng, Michel Michaelides, Peter Charbel Issa, Mathieu Quinodoz, Carlo Rivolta, Hendrik P.N. Scholl   +6 more
doaj   +2 more sources

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Acta Ophthalmologica, 2022
ABSTRACT Purpose To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases. Methods For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry.
Carel B Hoyng, Caroline C Klaver, Frans P M Cremers   +2 more
exaly   +2 more sources

Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids [PDF]

Cell Death and Disease
Stargardt disease is an inherited retinopathy affecting approximately 1:8000 individuals. It is characterised by biallelic variants in ABCA4 which encodes a vital protein for the recycling of retinaldehydes in the retina.
Avril Watson, Rachel Queen, Luis Ferrández-Peral, Birthe Dorgau, Joseph Collin, Andrew Nelson, Rafiqul Hussain, Jonathan Coxhead, Michael McCorkindale, Robert Atkinson, Darin Zerti, Valeria Chichagova, Ana Conesa, Lyle Armstrong, Frans P. M. Cremers, Majlinda Lako   +15 more
doaj   +2 more sources

Ferrostatin-1, a ferroptosis inhibitor, mitigates all-trans-retinal-induced retinal pigment epithelium degeneration in mice [PDF]

Journal of Translational Medicine
Background Disruption of the retinoid (visual) cycle causes all-trans-retinal (atRAL) to accumulate in photoreceptors and retinal pigment epithelium (RPE), contributing to Stargardt disease type 1 (STGD1) and dry age-related macular degeneration (dAMD ...
Xiaoqing Shen, Yuling Chen, Beiting He, Ruitong Xi, Jingmeng Chen, Yalin Wu   +5 more
doaj   +2 more sources

Exendin-4 averts all-trans-retinal-driven damage to photoreceptors and the retina via the GLP-1R/PKA/CREB1 signaling axis [PDF]

Cellular & Molecular Biology Letters
Background Atrophic macular degeneration comprises dry age-related macular degeneration (AMD) and autosomal recessive Stargardt disease (STGD1). These disorders lead to irreversible blindness and still lack effective therapies.
Beiting He, Yuling Chen, Peixin Cai, Ruitong Xi, Xiaoqing Shen, Shuting Guo, Jingmeng Chen, Shiying Li, Yalin Wu   +8 more
doaj   +2 more sources

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics & Genomic Medicine
Background This study characterizes the clinical and genetic features of ABCA4‐associated inherited retinal diseases (IRDs) in eight unrelated probands from the three provinces of Northeast China. All patients harbored biallelic pathogenic ABCA4 variants,
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
doaj   +2 more sources

Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis. [PDF]

FASEB J
Recessive Stargardt disease (STGD1) pathology, caused by mutations in the ABCA4 gene, can be recapitulated in vitro using retinal pigment epithelial (RPE) cells derived from induced pluripotent stem cells (iPSCs) of STGD1 patients. Dysfunctional ABCA4 leads to RPE lipofuscin‐autofluorescent buildup and endo‐lysosomal dysfunction evidenced by elevated ...
Ng ESY, Hu J, Jiang Z, Radu RA.
europepmc   +2 more sources