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. 2009 Mar 13;84(3):380–387. doi: 10.1016/j.ajhg.2009.02.005

Figure 2.

Figure 2

Color Photographs of the Retinas of Two RP Patients with SPATA7 Mutations

(A) Retinal image of the right eye of a 55-year-old male with juvenile RP and a homozygous c.1546delA p.Q465fsX505 frameshift mutation in SPATA7.

(B) Retinal photograph of the left eye of a 9-year-old female with 20/20 acuities, 5° visual fields, and a homozygous p.R395X nonsense mutation in SPATA7. The retinal appearance shows narrow arterioles but normal-caliber veins, normal color of the optic disc, a subtle grayish discoloration of the retina, and a faint hypopigmented diffuse perifoveal annulus. There were no pigmentary changes.