Fig. 2
variant sequence analysis and clinical examination of the family 7: (A) Pedigree of the family 7: 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 pale in both eyes, oval atrophy and yellowish-white patchy exudation were observed in the macular area, showing a bull’s-eye change, OCT indicated a significant thinning of the macular fovea, disappearance of the outer nuclear layer and ellipsoid zone, along with atrophy of the retinal pigment epithelium, fundus angiography reveals ‘worm-eaten-like’ fluorescent spots around the macular region. (C) Sequence chromatograms of identified variants. (D) The homology of amino acid sequences between human PROM1 and other species, the amino acid at positions 182 is highly conserved among species, and the mutated residues 182 is boxed and indicated.
