Submitted for Publication: January 2, 2013; final revision received March 1, 2013; accepted March 6, 2013.
Published Online: October 3, 2013. doi:10.1001/jamaophthalmol.2013.4392.
Study concept and design: Shaaban, Engle.
Acquisition of data: Shaaban, Ramos-Platt, Gilles, Chan, Andrews, De Girolami, Demer.
Analysis and interpretation of data: Shaaban, Ramos-Platt, Demer, Engle.
Drafting of the manuscript: Shaaban, Andrews, Engle.
Critical revision of the manuscript for important intellectual content: Shaaban, Ramos-Platt, Gilles, Chan, De Girolami, Demer, Engle.
Statistical analysis: Shaaban.
Obtained funding: Demer, Engle.
Administrative, technical, or material support: Ramos-Platt, Gilles, Chan, Andrews, Demer.
Study supervision: Demer, Engle.
Conflict of Interest Disclosures: None reported.
Funding/Support: This study was supported by the Al-Habtoor Dubai-Harvard Foundation fellowship (Dr Shaaban), the Manton Center for Orphan Disease Research (Dr Engle), and National Institutes of Health grants R01EY12498 and R01EY08313. Dr Engle is a Howard Hughes Medical Institute Investigator.
Role of the Sponsor: The funding organizations had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the patients and their families who participated in this study. We are grateful to the Broad Institute (funds from the National Human Genome Research Institute grant U54 HG003067, Eric Lander, PhD, principal investigator) and the Ocular Genomics Institute at Massachusetts Eye and Ear Infirmary/Harvard Medical School for generating high-quality sequence data. We also thank Xiaowu Gai, PhD, for help with whole-exome data analysis.