PMC4734152_01
Findings of retinitis pigmentosa and polydactyly in the male subject. A: Fundus photos demonstrate marked vascular attenuation in both eyes, diffuse RPE atrophic changes with some foveal preservation, and prominent luteal pigment visualization. B: Loss of the outer retinal layer on optical coherence tomography (OCT) imaging (arrowhead). C: The OCT images show significant retinal thinning in both maculas. D: Post-axial polydactyly of the hands and feet.
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Fundus images and macular optical coherence tomography (OCT) are shown in Figure 1A,B, respectively. Significant retinal thinning was observed in both maculas (Figure 1C). Patient was noted to have post-axial polydactyly of the hands and feet (Figure 1D).
PMC4734152_02
Findings of retinitis pigmentosa and polydactyly in the female subject. A: Fundus photos demonstrating marked vascular attenuation in both eyes and diffuse RPE atrophic changes. B: Optical coherence tomography (OCT) imaging shows loss of the outer retinal layer (arrowhead). C: The OCT images show significant bilateral retinal macular thinning. D: Post-axial polydactyly of the hands and feet.
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A fundus examination revealed bilateral optic nerve head pallor, retinal vascular attenuation, and RPE degeneration of the macula and the peripheral retina with mild bone spicule-like formation (Figure 2A,B). Bilateral retinal macular thinning was also observed in this subject (Figure 2C). She was noted to have post-axial polydactyly of the hands and feet (Figure 2D).