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. 2014 Apr 3;94(4):625–633. doi: 10.1016/j.ajhg.2014.03.005

Figure 3.

Figure 3

Retinal Imaging of Autosomal-Recessive-RCD Individuals Carrying KIZ Variants

(A–C) Fundus imaging of the right and left eye of CIC00173 from family A at 50 years of age. Fundus color photographs (FCPs; A), fundus autofluorescence (FAF; B), and macular horizontal scans of spectral domain optical coherence tomography (SD-OCT; C) show not only pigmentary changes in the peripheral retina but also atrophic changes in the central macula with a ring of hypoautofluorescence and foveal thinning with loss of outer-segment structures on SD-OCT.

(D–F) Fundus imaging of the right and left eye of CIC01611 from family B at 34 years of age. FCPs (D), FAF (E), and SD-OCT (F) show mild pigmentary changes in the peripheral retina in association with slight changes in FAF outside the vascular arcades and a perifoveal ring of increased autofluorescence (larger than observed for CIC01225), as well as normal foveal structure on OCT in keeping with normal central vision.

(G–I) Fundus imaging of the right and left eye of CIC01225 from family C at 51 years of age. FCPs (G), FAF (H), and SD-OCT (I) show pigmentary changes in the peripheral retina in association with a loss of FAF outside the vascular arcades and a perifoveal ring of increased autofluorescence and moderate thinning of the fovea on OCT.