Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

Figure 5

Spectral-domain optical coherence tomography registration thickness maps (left column) exhibited severe retinal thinning in all eyes. Accompanying foveal horizontal raster scans (right column) demonstrated outer retinal loss sparing the foveola in both eyes of all patients. The external limiting membrane, inner segment ellipsoid band, and photoreceptor outer segments were lost centrifugally until the hyperautofluorescent border of the macular lesions in Figure 2, where there was transition to normal retinal architecture. All cases had normal choroidal thickness, except case 1, who had pathologic myopia. (a, b) Right and left maculas of case 1 had staphylomatous posterior pole curvature, alpha zone parapapillary RPE atrophy, and choroidal thinning associated with pathologic myopia. (c, d) Right and left maculas of case 2 had the greatest preservation of outer retinal layers at the fovea and the nerve fiber layer throughout the macula compared to the other two cases. (e, f) Right and left maculas of case 3 had reduced inner retinal thickness with preservation of inner retinal lamination, similar to case 1.

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