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. 2018 Jan 12;10:453. doi: 10.3389/fnmol.2017.00453

FIGURE 1.

FIGURE 1

Pedigree and clinical characteristics of a patient with X-linked juvenile retinoschisis (XLRS). (A) Pedigree of the XLRS family. Black boxes, affected males; white boxes, unaffected males; white circles, unaffected females; boxes and circles with slashed, deceased; Circles with a black dot, carrier; the arrow points to the proband. (B) Fundoscopy of the proband patient revealed extensive retinal degeneration. Stellate maculopathy and retinal pigment epithelial atrophy in retinal fovea bilaterally. (C) Optical coherence tomography images from the proband, showing the retinal thickness is significantly decreased and cysts in peripheral retina (red circle). (D) The ERG of the rod, rod-cone mix, cone. Both a-wave and b-wave in XLRS proband are reduced or nearly disappeared. Black line, normal control; red line, proband. (E) Sanger sequencing results of unaffected individual and proband. T >G transversion in exon 4 (c.195T >G mutation) of RS1 that causes a conservative substitution of tyrosine to a stop codon.