Fig. 2

Family studies. A Sanger sequencing (left) and whole exome sequencing (right) of the patient and his parents. SSBP1 variant c.320G>A (p.Arg107Gln) was identified in the proband (first row), but equivocal in his mother (second row) using Sanger sequencing. Whole exome sequencing revealed a 13% of variant allele frequency of the patient’s mother. His father’s result is negative (third row). B Color fundus photography and spectral domain-optical coherence tomography of the macula of the parents are normal