@article{ea96800ec268480e9949e8cfbaa3be73,
title = "GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data",
abstract = "To report the clinical phenotype and associated genotype of a European patient cohort with GUCY2D-related autosomal-dominant (AD) cone–/cone–rod dystrophy (COD/CORD), we retrospec-tively analyzed 25 patients (17 female, range 12–68) with GUCY2D-related AD-COD/CORD from three major academic centers in Europe and reviewed the previously published data of 148 patients (visual acuity (VA), foveal thickness, age of first symptoms, and genetic variant). Considering all the patients, the onset of first symptoms was reported at a median age of 7 years (interquartile range 5–19 years, n = 78), and mainly consisted of reduced VA, photophobia and color vision abnormality. The disease showed a high degree of inter-eye symmetry in terms of VA (n = 165, Spearman{\textquoteright}s ρ = 0.85, p < 0.0001) and foveal thickness (Spearman{\textquoteright}s ρ = 0.96, n = 38, p <0.0001). Disease progression was assessed by plotting VA as a function of age (n = 170). A linear best-fit analysis suggested a loss of 0.17 logMAR per decade (p < 0.0001). We analyzed the largest cohort described so far (n = 173), and found that the most common mutations were p.(Arg838Cys) and p.(Arg838His). Furthermore, the majority of patients suffered severe vision loss in adulthood, highlighting a window of opportu-nity for potential intervention. The emerging patterns revealed by this study may aid in designing prospective natural history studies to further define endpoints for future interventional trials.",
keywords = "Cone dystrophy, Cone–rod dystrophy, Disease progression, Eye, GUCY2D, Guanylate cyclase 2D, Inherited retinal disease, OCT, Symmetry, Visual acuity",
author = "Jonas Neubauer and Leo Hahn and Johannes Birtel and Boon, {Camiel J. F.} and {Charbel Issa}, Peter and Fischer, {M. Dominik}",
note = "Funding Information: Funding: Supported by the Dr. Werner Jackst{\"a}dt Foundation, Wuppertal, Germany (grant no.: S0134-10.22 (J.B.)); the Bayer Global Ophthalmology Awards Program (J.B.), and the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the authors and not necessarily those of the National Health Service, the National Institute for Health Research, or the Department of Health. The sponsor and funding organization had no role in the design or conducting of this research. We acknowledge support by Open Access Publishing Fund of University of Tuebingen. Funding Information: Supported by the Dr. Werner Jackst?dt Foundation, Wuppertal, Germany (grant no.: S0134-10.22 (J.B.)); the Bayer Global Ophthalmology Awards Program (J.B.), and the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the authors and not necessarily those of the National Health Service, the National Institute for Health Research, or the Department of Health. The sponsor and funding organization had no role in the design or conducting of this research. We acknowledge support by Open Access Publishing Fund of University of Tuebingen. Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",
year = "2022",
month = feb,
day = "1",
doi = "https://doi.org/10.3390/genes13020313",
language = "English",
volume = "13",
journal = "Genes",
issn = "2073-4425",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "2",
}