Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous <i>ABCA4</i> Variants: A Case Report and Diagnostic Challenge. [PDF]
Clin Case RepInherited 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 ...
Li N, Dang Y.
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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
doaj +3 more sources
A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation. [PDF]
Case Rep Ophthalmol, 2018 A 12-year-old girl with bilateral stage 2B Coats disease was screened meticulously for a possible underlying systemic disease as she was female and the disease was bilateral. Full systemic workout turned out to be unremarkable.
Saatci AO +5 more
europepmc +2 more sources
Identification and functional characterization of <i>ABCA4</i> gene variants in three patients with Stargardt disease or retinitis pigmentosa. [PDF]
Front GenetIntroductionThe diversity of phenotypes, ranging from inherited retinal dystrophies (such as Stargardt disease 1, cone–rod dystrophy 3, and retinitis pigmentosa 19) to late-onset age-related macular degeneration 2, has been attributed to loss-of-function
Luo Q +10 more
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Update on the Management of ABCA4 Retinopathy (Stargardt Disease). [PDF]
Ophthalmol TherABCA4-associated retinopathies (Stargardt disease) are the most common inherited macular dystrophy and a leading cause of early onset central vision loss.
Parameswarappa DC +3 more
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Case series: The value of fundus autofluorescence in inherited macular disease. [PDF]
Optom Vis SciABSTRACT Purpose To evaluate the diagnostic utility of fundus autofluorescence (FAF) imaging in identifying and characterizing phenotypically classified inherited macular dystrophies. In this way, we aim to provide methods by which eye care practitioners can link FAF imaging and other clinical results or imaging modalities to aid their clinical ...
Guro M +6 more
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ABCA4-associated maculopathy suspected to be ocular toxoplasmosis. [PDF]
BMC OphthalmolBackground Macular coloboma is a rare congenital anomaly that may mimic other retinal pathologies, including infectious disease and inherited retinal dystrophies.
Elsayed MEAA, Barone V, MacLaren RE.
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Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease
Acta Medica Iranica, 2023 Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES.
Masoumeh Mohebi +2 more
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Stem Cell Research, 2022 ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old ...
Lu Tian, Xiao-hui Zhang, Ke Xu, Yang Li
doaj +1 more source
HGG Advances, 2023 Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown.
Zelia Corradi +18 more
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