ABCA4-related retinopathies in Lebanon
HeliyonVariants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies.
Charles Helou, Said El Shamieh
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Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Molecular Therapy - Nucleic Acids, 2020 Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein.
Alex Garanto +2 more
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Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge [PDF]
Clinical Case ReportsInherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration ...
Na Li, Yalong Dang
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ABCA4-associated maculopathy suspected to be ocular toxoplasmosis [PDF]
BMC OphthalmologyBackground Macular coloboma is a rare congenital anomaly that may mimic other retinal pathologies, including infectious disease and inherited retinal dystrophies.
Maram E. A. Abdalla Elsayed +2 more
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Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles
Molecular Therapy: Nucleic Acids, 2022 Stargardt disease (STGD) is the most common form of inherited retinal genetic disorders and is often caused by mutations in ABCA4. Gene therapy has the promise to effectively treat monogenic retinal disorders.
Da Sun +12 more
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Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes
Diagnostics, 2023 (1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists.
Tien-En Tan +4 more
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Functional characterization of ABCA4 genetic variants related to Stargardt disease
Scientific Reports, 2022 The ATP-binding cassette subfamily 4 (ABCA4), a transporter, is localized within the photoreceptors of the retina, and its genetic variants cause retinal dystrophy. Despite the clinical importance of the ABCA4 transporter, a few studies have investigated
Bo Min Kim +6 more
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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
Frontiers in Genetics, 2021 PurposeTo describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients.MethodsThis retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of ...
Marcela D. Mena +8 more
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Ultrastructural alterations in the retinal pigment epithelium and photoreceptors of a Stargardt patient and three Stargardt mouse models: indication for the central role of RPE melanin in oxidative stress [PDF]
PeerJ, 2018 Background Stargardt disease (SD) is characterized by the accumulation of the age-pigment lipofuscin in the retinal pigment epithelium (RPE) and subsequent neuroretinal degeneration. The disease leads to vision loss early in life.
Tatjana Taubitz +7 more
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Molecular structures of the eukaryotic retinal importer ABCA4
eLife, 2021 The ATP-binding cassette (ABC) transporter family contains thousands of members with diverse functions. Movement of the substrate, powered by ATP hydrolysis, can be outward (export) or inward (import).
Fangyu Liu, James Lee, Jue Chen
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