Figure 2: Fundus appearance in twin sisters with PMM2-CDG at the age of 18 and 41 years.
(A,B) At the age of 18 years, a pink aspect of the optic discs and a moderate narrowing of the vasculature could be seen in addition to bony spicule pigmentary deposits in the mid peripheral retina, both in patient 1 (A) and patient 2 (B). In patient 1, a wrinkling of the macular retinal surface was noticed (A).
(C,D) At the age of 41 years, findings of fundoscopy had remained the same for patient 1 (C) and patient 2 (D).