Figure 5
From: Characterization of SSBP1-related optic atrophy and foveopathy
DOA plus rod-cone dystrophy in the individual V-42. This 69 year-old-patient was legally blind with a visual acuity of 20/400 in both eyes. Visual loss occurred at the age of 6 years. (A, B) Color fundus photographs. Note the temporal pallor and criteria of combined rod cone dystrophy with attenuated retinal vessels and typical pigmentary changes along the vascular arcades. (C, D) FAF showing patches of hypoautofluorescence more prominent and confluent around the vascular arcades, and an autofluorescence perifoveal ring. (E–H) Infrared reflectance photographs and macular SD-OCT. There is a severe thinning of the papillomacular bundle (white arrows) compatible with the optic atrophy. The outer nuclear layer EZ and IZ lines are not visible outside the macula (blue arrows) in both eyes due to the rod-cone dystrophy. Photographs were taken by IM.
