Figure 2
From: Clinical and mutational characteristics of oculocutaneous albinism type 7
Clinical features of 3 OCA7 patients from the Netherlands, P1 and P2 of Kurdish origin, P3 of Dutch origin. Pigmentation of skin and hair, fundus pigmentation, optical coherence tomography, and visually evoked potentials of patients P1, P2, and P3. None of the patients had iris translucency. Note the normally pigmented skin and hair, which were comparable to family members of all patients. P1, and P3 had fundus hypopigmentation grade 2 with choroid vessels visible in the posterior pole, but not in the macula. Due to poor cooperation it was difficult to capture the macular region in P1, but on fundoscopy the region was clearly pigmented. P2 had grade 1 hypopigmentation of the fundus with choroid vessels visible in the (mid)periphery1. In all patients severe foveal hypoplasia (grade 3) was present7. Difference signal of the flash visually evoked potentials (VEP) between the electrode on the left hemisphere and the right hemisphere of P2 and P3 show obvious misrouting, in P1 misrouting was present, but less obvious in a poor cooperative 8 months old girl9. The red lines are the recordings from the right eye and blue lines from the left eye.
