Fig. 2.

Imaging in a 66-year-old male with severe RP associated with a heterozygous missense variant c.2603G > A (p.Gly868Asp) in exon 26 of CNGB1 and a heterozygous in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.Cys698_lle701dup) in exon 21of CNGB1variants. A&B: Color fundus photos of the right and left eye. Both eyes show extensive RPE atrophy, intra-retinal pigment migration, attenuated retinal vessels, and pale optic discs. C&D: AF imaging of the right and left eye showing a small preserved island of about 3 disc diameters with loss of signal outside that island. E&F: OCT horizontal cut through the fovea of the right and left eye showing a small central zone of preserved inner segment ellipsoid (ISe) (the area between the arrows) and loss of the ISe outside that area. . (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)