Fig. 4.

Spectral-domain optical coherence tomography scans in three patients with mutations in TTLL5. Spectral-domain optical coherence tomography of P1 revealed central macular atrophy and diffuse retinal thinning consistent with cone–rod dystrophy (A). P2 demonstrated relatively preserved retinal architecture with the exception of disruption of the ellipsoid zone band in the distribution of the hypoautofluorescent ring around the fovea and thinning of the outer nuclear layers (B). P3 was found to have diffuse macular atrophy with retinal thinning and RPE atrophy (C). A small area of spared ellipsoid zone can be observed along the temporal border of the macula