Notably, in the Chinese family, one affected individual carried c.555G > A change in heterozygous form along with a novel hemizygous OFD1 mutation i.e., c.358 A > G (p.Thr120Ala) and the phenotype being RP with macular degeneration and without any signs of cataract and myopia. Here, OFD1 is linked to macular degeneration.