Fig. 5
variant sequence analysis and clinical examination of the family 13: (A) Pedigree of the family 13:The filled black symbol represents the affected member, and the arrow denotes the proband. (B) The fundus of both eyes: The color of the optic was waxy yellow in both eyes, the retinal vessels were attenuated, and bone spicule-like pigment deposits were visible on the peripheral retina, OCT examination showed the disappearance of the light reflection signals in the local ellipsoid zone and interdigitation zone at the macular center, along with atrophy of the retinal pigment epithelium in the left eye. (C) Sequence chromatograms of identified variants. (D) The homology of amino acid sequences between human CNGA1 and other species, the amino acid at positions 85 is highly conserved among species, and the mutated residues 85 is boxed and indicated.
