Figure 3.

OCT performed in five patients with confirmed biallelic variants in CLN3. (A, E) OCT imaging revealed diffuse retinal thinning, loss of outer retinal structure, and loss of the ellipsoid zone in patients I and V, respectively. (B) Imaging of patient II demonstrated normal extrafoveal architecture with a foveal optical gap. (C, D) Patients III and IV demonstrated severe and mild cystoid macular edema, respectively, with preservation of the ellipsoid zone within the fovea and peripheral retinal thinning and loss of outer retinal layers.