Fig. 1

variant sequence analysis and clinical examination of the family 4: (A) Pedigree of the family 4: The filled black symbol represents the affected member, and the arrow denotes the proband. (B) Sequence chromatograms of identified variants. (C) The fundus of both eyes: The color of the optic was waxy yellow, the retinal vessels were attenuated, and bone spicule-like pigment deposits were visible on the peripheral retina, OCT showed the disappearance of the light reflection signals in the local ellipsoid zone and interdigitation zone of fovea, along with atrophy of the retinal pigment epithelium. (D) ERG: Significant impairment of cone and rod cell function in both eyes. (E) The homology of amino acid sequences between human USH2A and other species, the amino acid at positions 3393 is highly conserved among species, and the mutated residues 3393 is boxed and indicated.