Characterization of Retinal Structure in ATF6-Associated Achromatopsia
Investigative Ophthalmology & Visual Science2019Vol. 60(7), pp. 2631–2631
Citations Over TimeTop 10% of 2019 papers
Rebecca Mastey, Michalis Georgiou, Christopher S. Langlo, Angelos Kalitzeos, Emily J Patterson, Thomas Kane, Navjit Singh, Ajoy Vincent, Anthony T. Moore, Stephen H. Tsang, Jonathan H. Lin, Marielle P. Young, M. Elizabeth Hartnett, Elise Héon, Susanne Kohl, Michel Michaelides, Joseph Carroll
Abstract
Our data demonstrate a near absence of cone structure in subjects harboring ATF6 mutations. This implicates ATF6 as having a major role in cone development and suggests that at least a subset of subjects with ATF6-ACHM have markedly fewer cellular targets for cone-directed gene therapies than do subjects with CNGA3- or CNGB3-ACHM.
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