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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…
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Keywords:
peripheral pigmented;
retinal lesions;
associated retinopathy;
pigmented lesions ... See more keywords
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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…
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Keywords:
abca4 associated;
loss;
photoreceptor degeneration;
associated retinopathy ... See more keywords