Abstract
ABCA4 encodes an ATP-binding cassette transporter expressed in cone and rod photoreceptors that is responsible for the transport of N-retinyl-phosphatidyl-ethanolamine and all-trans-retinaldehyde as part of the visual cycle. Recessively inherited mutations can cause a variety of ABCA4-related retinopathies that includes Stargardt disease, fundus flavimaculatus, retinitis pigmentosa (rod-cone dystrophy)-like phenotype, cone dystrophy, and cone-rod dystrophy [1–3].
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Zahid, S. et al. (2018). ABCA4 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_1
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