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    Retina/Vitreous

    PRPH2-associated retinopathies. Fundus images from individuals with 2 different presentations of pattern dystrophy (a, b) and central areolar choroidal dystrophy (c) are accompanied by fundus autofluorescence (FAF; middle row) and optical coherence tomography (OCT; bottom row). Hypoautofluorescence in the FAF images corresponds to areas of retinal pigment epithelium disturbance and loss in the fundus photos and OCTs. The elevation (arrow) in the OCT in (c) may correspond to a prior choroidal neovascularization. All individuals had confirmed pathogenic PRPH2 mutations.