MFRP and retinal degeneration: As this was a novel finding, in order to see that the spots in patients were not mutation specific, and limited to patients harboring the c.498_499insC Mfrp mutation, we similarly performed ultra-widefield imaging and SD-OCT in a 44-year-old male patient carrying c.523C > T, p.(Gln175*) and c.649G > A, p.(Gly217Arg) variants in Mfrp (Supplementary Table A) who also exhibited classical features of MARD including retinal degeneration, nanophthalmos and foveoschisis.