Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

"Disclosure: S.P. Shankar, Emory (E); D.K. Hughbanks-Wheaton, None; D.G. Birch, Shire (C), Acucela (C), NightStarX (C), AGTC (C), Thrombogenics (C), Allergan (C), QLT (C); L.S. Sullivan, None; K.N. Conneely, None; S.J. Bowne, None; E.M. Stone, None; S.P. Daiger, None"

"Supported in part by an unrestricted grant from Research to Prevent Blindness to the Department of Ophthalmology, Emory University. Supported by grants from the Foundation Fighting Blindness, William Stamps Farish Fund, the Hermann Eye Fund, Howard Hughes Medical Institute, and by National Institutes of Health (NIH; Bethesda, MD, USA) Grants EY007142 (SPD) and EY09076 (DGB). Research to Prevent Blindness provides an unrestricted grant to the Department of Ophthalmology, Emory University (P30EY006360, SPS)."