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

Figure 5. Family 5 with a novel deletion c.2403_04delAG (p.E802GfsX31) in ORF15 of RPGR gene.

Figure 5

A: The pedigree of Family 5. 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 40-year-old proband (IV:14) showed characteristic bone spicule pigment deposits, attenuation of retinal arterioles and RPE degeneration. D–E: Fundus photographs of the 12-year-old patient (V:5) demonstrated pigment deposits in the middle and periphery retina, with white dots scattered in the pigment deposits. F: Representative sequence chromatograms for a normal individual (left), a female mutation carrier (middle) and a male patient (right).