Figure 2 | Scientific Reports

Figure 2

From: Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Figure 2

A 34-year-old man with a retinitis pigmentosa phenotype carrying a homozygous AIPL1 c.364G>A (p.G122R) variant. Nyctalopia since early childhood was described by the patient. Visual acuity was 20/50 in the right eye and 20/100 in the left eye. (a,b) Infrared reflectance imaging. The retinal vessel diameters are reduced with bone-spicule-like pigmentation in the peripheral retina (white arrows). Fundus autofluorescence revealed multiple hypoautofluorescent spots within the peripheral retina. There was no macular ring of increased signal, but small hypoautofluorescent lesions were seen within the fovea (white arrows).

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