Results 11 to 20 of about 971 (147)

Systemic complement activation levels in Stargardt disease. [PDF]

PLoS ONE, 2021
PurposePreclinical research provides evidence for the complement system as a potential common pathway in Stargardt disease (STGD1) and age-related macular degeneration (AMD) leading to retinal pigment epithelium (RPE) loss.
Patty P A Dhooge, Esmee H Runhart, Catherina H Z Li, Corrie M de Kat Angelino, Carel B Hoyng, Renate G van der Molen, Anneke I den Hollander   +6 more
doaj   +5 more sources

Kinetics of Heterogeneous Background in Stargardt’s Disease over Time

Life, 2022
Stargardt’s disease (STGD1) is caused by mutations in the ABCA4 gene. Different lesions characterised by decreased autofluorescence levels are found in fundus autofluorescence (FAF) from STGD1 patients and could be used as outcome indicators for disease ...
Eduardo Rodríguez-Bocanegra, Marc Biarnés, Míriam Garcia, Lucía Lee Ferraro, Manuel Dominik Fischer, Jordi Monés   +5 more
doaj   +2 more sources

The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease [PDF]

Diagnostics
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.
Hanna De Bruyn, Megan Johnson, Madelyn Moretti, Saleh Ahmed, Mircea Mujat, James D. Akula, Tomislav Glavan, Ivana Mihalek, Sigrid Aslaksen, Laurie L. Molday, Robert S. Molday, Bruce A. Berkowitz, Anne B. Fulton   +12 more
doaj   +2 more sources

Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease [PDF]

Scientific Reports
Image based cell-specific biomarkers will play an important role in monitoring treatment outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on the exact mechanism of retinal degeneration. This study reports
Mital Shah, Susan M. Downes, Hannah E. Smithson, Laura K. Young   +3 more
doaj   +2 more sources

Exposure of A2E to blue light promotes ferroptosis in the retinal pigment epithelium [PDF]

Cellular & Molecular Biology Letters
Background Age-dependent accumulation of lipofuscin in the retinal pigment epithelium (RPE) is closely related to the etiology of autosomal recessive Stargardt’s disease (STGD1) and dry age-related macular degeneration (AMD).
Bo Yang, Kunhuan Yang, Yuling Chen, Qingjian Li, Jingmeng Chen, Shiying Li, Yalin Wu   +6 more
doaj   +2 more sources

Does (Saffron) Have an Influence or Effect on Ocular Health: A Systematic Literature Review [PDF]

Journal of Evidence-Based Integrative Medicine
Background Crocus sativus (Saffron) and its bioactive constituents, crocin and crocetin have gained attention for their neuroprotective and antioxidant properties in ocular health.
Sonia Ferrara MAdvNatMed, Janet Schloss PhD   +1 more
doaj   +2 more sources

Novel variants of ABCA4 in Han Chinese families with Stargardt disease

BMC Medical Genetics, 2020
Background Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1.
Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu   +6 more
doaj   +1 more source

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients

Journal of Ophthalmic & Vision Research, 2022
Purpose: Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1.
Ensieh Darbari, Hamid Ahmadieh, Narsis Daftarian, Mozhgan Rezaei Kanavi, Fatemeh Suri, Hamideh Sabbaghi, Elahe Elahi   +6 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

Stem Cell Research, 2021
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Samuel McLenachan, Fred K. Chen   +11 more
doaj   +1 more source

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Journal of Translational Medicine, 2023
Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers   +8 more
doaj   +1 more source