Figure 13.

The clinical appearance of family 5b (p.Arg195Leu). F5b-III-4 had (A) a large area of atrophy in the posterior pole and (B) extensive atrophy in the mid-periphery. The least affected patient was F5b-IV-2 with mild macular changes in the (C) fundus and (D) AF. F5b-IV-1 had clear macular atrophy in (E) the fundus and (F) AF. (G) F5b-IV-4 had atrophy in the posterior pole and mid-periphery, outer retinal atrophy (red brace and red arrow) was much more evident in the (H) SD-OCT and (I) autofluorescence images, and (J) extension of atrophy to the mid-periphery was evident in the fluorescein angiogram.