Fig. 2

Sequence analysis and clinical examination of the family 2: (A) Pedigree of the family 2: 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: fundus tessellation with macular atrophy, the peripheral retina did not show obvious bone-spicule pigmentation; OCT of both eyes showed thinning of the outer layer of the macula and the disappearance of light reflection signal in the ellipsoid zone and chimeric zone of fovea centralis. (C) Scotopic and photopic ERG responses were severe declined in both eyes (D) Sequence chromatograms of identified mutations. (E) The homology of amino acid sequences between human RP2 and other species. The amino acid at position 171 is highly conserved among species, the mutated residue 171 is boxed and indicated. (F) The mRNA expression of RP2 gene available with the samples was 0.20 in proband (II:1), 0.34 in mother(I:2), and 1.00 in father (I:1)