Fig. 3

Sequence analysis and clinical examination of the family 3: (A) Pedigree of the family 3:The filled black symbol represents the affected member, a central dot denotes carriers, and the arrow denotes the proband. (B) The fundus of both eyes: the fundus is orange with pigment loss, parapapillary atrophy around the disc and macular phyoplasia with no reflection; Fovea centralis structure was not observed on OCT. (C) Sequence chromatograms of identified mutations. (D) The homology of amino acid sequences between human GPR143 and other species. The amino acid at position 33 is highly conserved among species,and the mutated residue 33 is boxed and indicated. (E) The protein structure suggested that p. Cys33Phe mutation resulted in the replacement of the cysteine at site 33 with a large, nonpolar uncharged phenylalanine