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. 2019 Dec 30;25:869–889.

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Copyright © 2019 Molecular Vision.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.

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Clinical imagining of patient 7 with a c.44A>G mutation in RHO (p.Asn15Ser). A, E: Oculus dexter (OD) color photos showing a concentric foveal hypopigmentation, marked parafoveal RPE mottling and hypopigmentation, RPE atrophy, and bone spicules adjacent to and along the inferior arcades with mild extension temporally to the fovea as well as temporally and superonasally with respect to the optic disc and superonasally with respect to the superior arcade. B, F: Oculus sinister (OS) color photos showing concentric foveal hypopigmentation, marked parafoveal RPE mottling and hypopigmentation, RPE atrophy, and bone spicules adjacent to and along the inferior arcades with mild extension temporally to the fovea as well as temporally and superonasally with respect to the optic disc and superonasally with respect to the superior arcade. C, G: OD fundus autofluorescence (FAF) fundus photos showing a central hyper-autofluorescence (hyperAF) rim surrounded by a speckled pattern of hypoautofluorescence (hypoAF) forming a “bull’s eye”-like pattern. There is also a circinate area of hypoAF along the inferior and superior arcades with a patchy pattern of marked hypoAF extending inferiorly from the inferior arcade into the periphery. D, H: OS FAF fundus photos showing a central hyperAF rim surrounded by a speckled pattern of hypoAF forming a “bull’s eye”-like pattern. There is also a circinate area of hypoAF along the inferior and superior arcades with a patchy pattern of marked hypoAF extending inferiorly from the inferior arcade into the periphery. I: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing a small island of preservation in the ellipsoid zone subfoveally, marked retinal layers contour abnormalities and thinning, RPE hyperreflective round deposits, significant choroidal hyper-reflective signal, and intraretinal cystic spaces. J: OS foveal SD-OCT showing a small island of preservation in the ellipsoid zone subfoveally, marked retinal layer contour abnormalities and thinning, RPE hyperreflective round deposits, significant choroidal hyper-reflective signal, and intraretinal cystic spaces. K: OS Goldman visual field showing superonasal and inferonasal defects. L: OD Goldman visual field showing superonasal defects.