Web Resources CellProfiler (Broad Institute), http://cellprofiler.org/ GeneMarker Software (SoftGenetics), https://softgenetics.com/GeneMarker.php GraphPad Prism 6 software, https://www.graphpad.com/scientific-software/prism/ OMIM, http://www.omim.org/ R 3.4.1 statistical software base packages, https://cran.r-project.org/ Supplemental Data Document S1. Figures S1–S6 and Tables S1–S9 Document S2. Article plus Supplemental Data Acknowledgments We would like to thank all affected individuals for participating in this research. We would also like to acknowledge Dr. Charles A. Thornton for generously providing the MBNL1 (A2764) antibody used in this study and Miracles for Sight Eye bank for providing control corneal tissue. We thank Prof. Andrew Webster and Dr. Valentina Cipriani for granting access to AMD DNA samples and Prof. Veronica van Heyningen for providing a critical appraisal of the manuscript. This work was funded by Fight for Sight Early Career Investigator Award (A.E.D.), Academy of Medical Sciences (A.E.D.), The National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology, Rosetrees Trust (A.E.D. and A.J.H.), Wellcome Trust (M.E.C.), and ProQR Therapeutics. L.D., P.S., and P.L. were supported by PROGRES-Q26/LF1 and GACR 17-12355S. L.D. and P.L. were further supported by UNCE 204064 and P.S. by GA UK 250361/2017 and SVV 260367/2017. A patent has been filed by ProQR with UK and European patent offices (1517565) describing a method of treating FECD. P.A. is a listed inventor on this patent. P.K., K.D., and P.A. are all employees of ProQR Therapeutics. This work was supported in part by a grant from ProQR Therapeutics. Supplemental Data include six figures and nine tables and can be found with this article online at https://doi.org/10.1016/j.ajhg.2018.02.010.