Submitted for Publication: March 5, 2014; final revision received April 29, 2014; accepted April 29, 2014.
Published Online: August 14, 2014. doi:10.1001/jamaophthalmol.2014.2814.
Study concept and design: Robitaille, LeBlanc, Ells, Shalev, Fernandez, McMaster, Bedard.
Acquisition, analysis, or interpretation of data: Robitaille, Gillett, LeBlanc, Gaston, Nightingale, Mackley, Parkash, Hathaway, Thomas, Ells, Traboulsi, Héon, Roy, MacGillivray, Wallace, Fahiminiya, Majewski, McMaster, Bedard.
Drafting of the manuscript: Robitaille, Gillett, LeBlanc, Gaston, Nightingale, Mackley, Shalev, McMaster.
Critical revision of the manuscript for important intellectual content: Robitaille, Gillett, LeBlanc, Gaston, Parkash, Hathaway, Thomas, Ells, Traboulsi, Héon, Roy, Fernandez, MacGillivray, Wallace, Fahiminiya, Majewski, McMaster, Bedard.
Statistical analysis: Robitaille, Gaston, Héon, Bedard.
Obtained funding: Robitaille, Fernandez, Majewski, McMaster, Bedard.
Administrative, technical, or material support: Robitaille, Gillett, Gaston, Nightingale, Mackley, Thomas, Ells, Traboulsi, MacGillivray, Wallace, McMaster, Bedard.
Study supervision: Robitaille, Gillett, Nightingale, Ells, McMaster, Bedard.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.
Funding/Support: Orphan Diseases: Identifying Genes and Novel Therapeutics to Enhance Treatment Project is funded under the Large Scale Applied Research Program of Genome Canada with matching funding provided by Health Canada; Departments of Medicine and Ophthalmology, Dalhousie University Faculty of Medicine; the Dalhousie Medical Research Fund; the Nova Scotia Health Research Foundation; the Dalhousie University Industry and Liaison Office; Genome British Columbia; the Center for Drug Research and Development, Vancouver, British Columbia; the Capital District Health Authority; and the Department of Health and Wellness of Nova Scotia.
Role of the Funder/Sponsor: The sponsors had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We wish to acknowledge the support and effort of the participating families.