Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3319.pdf
Reference48 articles.
1. Thiadens, A.A. et al. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest. Ophthalmol. Vis. Sci. 51, 5952–5957 (2010).
2. Thomas, M.G. et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology 118, 1653–1660 (2011).
3. Genead, M.A. et al. Photoreceptor structure and function in patients with congenital achromatopsia. Invest. Ophthalmol. Vis. Sci. 52, 7298–7308 (2011).
4. Sundaram, V. et al. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology 121, 234–245 (2014).
5. Aboshiha, J. et al. A prospective longitudinal study of retinal structure and function in achromatopsia. Invest. Ophthalmol. Vis. Sci. 55, 5733–5743 (2014).
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