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. 2014 Jan 15;9(1):e85752. doi: 10.1371/journal.pone.0085752

Figure 4. Family 4 with a novel deletion c.2236_37delGA (p.E746RfsX22) in ORF15 of RPGR gene.

Figure 4

A: The pedigree of Family 4. Filled symbols represent affected, unfilled unaffected, dotted carrier. Square signify male, circles females. Arrow marks the index patient. M refers to the mutant allele, and + means normal allele. B–C: Fundus photographs of the 42-year-old proband (V:1) showed bone spicules like pigmentation, attenuated blood vessels, waxy pallor of the disc and RPE degeneration. D: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).