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A novel RPGR mutation masquerading as Stargardt disease

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  • Contributors Design and conduct of the study, collection and management (AGB, TS, SHT, VBM), analysis and interpretation of the data and preparation, review, and approval of the manuscript (AGB, TS, SHT, VBM).

  • Competing interests VBM is supported by NIH grant K08EY020530 and Research to Prevent Blindness (New York, NY). The Bernard and Shirlee Brown Glaucoma Laboratory is supported by NIH core grants 5P30CA013696 and 5P30EY019007, unrestricted funds from Research to Prevent Blindness, New York, USA. SHT is a member of the RD-CURE Consortium and is supported by Tistou and Charlotte Kerstan Foundation, NIH R01EY018213, the Research to Prevent Blindness Physician-Scientist Award, the Barbara and Donald Jonas Family Fund, the Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312), the Joel Hoffman Fund, Charles Culpeper Scholarship, Irma T Hirschl Charitable Trust, Gebroe Family Foundation.

  • Ethics approval Columbia University IRB.

  • Provenance and peer review Not commissioned; externally peer reviewed.