PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.

"Disclosure: M. Daich Varela, None; E. Schiff, None; S. Malka, None; G. Wright, None; O.A. Mahroo, None; A.R. Webster, None; M. Michaelides, None; G. Arno, None"

"GA is funded by a Fight For Sight UK Early Career Investigator Award (5045/46), the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital Institute for Child Health and at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, and Moorfields Eye Charity. OM is supported by The Wellcome Trust (206619/Z/17/Z). MM is supported by The Wellcome Trust (099173/Z/12/Z), the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Moorfields Eye Charity, Retina UK, and the Foundation Fighting Blindness."