Articles with "abca4 associated" as a keyword



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Peripheral pigmented lesions in ABCA4-associated retinopathy

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Published in 2021 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2021.1897850

Abstract: ABSTRACT Purpose: To investigate the prevalence and characteristics of peripheral pigmented retinal lesions and the associated clinical and genetic findings in patients with pathogenic variants in the ABCA4 gene. Methods: Records at a single tertiary… read more here.

Keywords: peripheral pigmented; retinal lesions; associated retinopathy; pigmented lesions ... See more keywords
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Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

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Published in 2022 at "JCI Insight"

DOI: 10.1172/jci.insight.155373

Abstract: BACKGROUND Outcome measures sensitive to disease progression are needed for ATP-binding cassette, sub-family A, member 4–associated (ABCA4-associated) retinopathy. We aimed to quantify ellipsoid zone (EZ) loss and photoreceptor degeneration beyond EZ-loss in ABCA4-associated retinopathy and… read more here.

Keywords: abca4 associated; loss; photoreceptor degeneration; associated retinopathy ... See more keywords