Figure 2. Fundus photograph, fundus autofluorescence and OCT images of patients.
A: Fundus photograph of the patient with mutation p.F73L showed many small yellowish-white sparkling crystalline deposits scattered throughout the fundus and RPE atrophy (II: 2/family B); B: Fundus image of the patient with mutation p.T479TfsX7 revealed typical crystalline deposits distributed in the posterior pole with most of them located at the macular (II: 1/family E); C: OCT image demonstrated the presence of RPE atrophy and irregularity of the tri-laminar structure of the high reflectance band (II: 1/family E); D: Fundus photograph revealed diffuse RPE atrophy with numerous crystalline deposits (II: 2/family A); E: OCT images showed foveal contour with scarred subfoveal CNV and intraretinal hyperintense lesions (the red arrow) confirming the presence of intraretinal crystals (II: 2/family A); F: Fundus autofluorescence picture depicted widespread hypo-autofluorescent atrophic areas (II: 2/family A).