Ciliary diseases can cause a variety of symptoms in patients, including kidney failure, nervous system defects, extra fingers and toes, and progressive blindness. According to Katsanis, whether a patient goes blind depends on modifiers like A229T. "A229T increases one's risk 10 percent to go blind," says Katsanis. "But it's only one single genetic change of many possible. Now we want to collect all modifier information so we can develop specific drug information and specific treatment regimens."

This work was funded by the National Eye Institute; the National Institute of Child Health and Development; the National Institute of Diabetes, Digestive and Kidney Disorders; the Intramural Program of National Eye Institute; the Macular Vision Research Foundation; the Foundation for Fighting Blindness; the Foundation for Fighting Blindness Canada; Le Fonds de la recherch?© en sante de Qu?©bec; Research to Prevent Blindness; the Harold Falls Collegiate Professorship; the Midwest Eye Banks and Transplantation Center; the Searle Scholars Program; the UK Medical Research Council; the NIHR Biomedical Research Centre for Ophthalmology; the EU-GENORET Grant; the Howard Hughes Medical Institute; and the Doris Duke Distinguished Clinical Scientist Award.

Authors of this paper are Hemant Khanna, Carlos A. Murga-Zamalloa, Alejandro Estrada, Mohammad I. Othman, Friedhelm Hildebrandt, Edgar A. Otto and Anand Swaroop of the University of Michigan, Ann Arbor; Erica E. Davis, Perciliz L. Tan, Michael A. Beer and Nicholas Katsanis of the Johns Hopkins University School of Medicine; Irma Lopez and Robert K. Koenekoop of McGill University Health Centre, Canada; Anneke I. den Hollander and Marijke N. Zonneveld of the Radboud University Nijmegen Medical Centre, The Netherlands; Naushin Waseem, Christina F. Chakarova, Cecilia Maubaret and Shomi S. Bhattacharya of the Institute of Opthalmology, UCL, United Kingdom; Anna Diaz-Font and Philip L. Beales of University College London, United Kingdom; Ian MacDonald of the National Eye Institute; Donna M. Muzny, David A. Wheeler, Margaret Morgan, Lora R. Lewis, Richard A. Lewis and Richard A. Gibbs of Baylor College of Medicine; Clare V. Logan, Chris F. Inglehearn and Colin A. Johnson of St. James's University Hospital, United Kingdom; Samuel G. Jacobson of the University of Pennsylvania; Carsten Bergmann of the RWTH University of Aachen, Germany; and Tania Atti?©-Bitach of H pital Necker-Enfants Malades, France.

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