Figure 2

(A) and (B) Macroscopic skin appearances of Brother 2 at age 33 years. He reported hair graying dating from adolescence. He recalled abnormal skin pigmentation appearing in early adulthood; this is in contrast to his sister, whose parents report had developed pigmentary abnormalities in early childhood. Her skin changed in appearance over time, initially exhibiting generalized hyperpigmentation, but with development of hypopigmented macules in early adulthood. (C) Goldmann visual fields of Brother 1 at aged 38 years. Despite significant central and peripheral field loss, he reported no subjective deficits in peripheral vision. His affected sister and brother also were found to have central field loss on visual field testing. Although retinal appearances were grossly normal, retinal visualization with ocular coherence tomography (OCT) showed nerve fiber thinning to varying extents in the three affected siblings. (D) Sagittal T1 MRI study the brain of the female proband at 40 years of age showing mild cerebral and cerebellar volume loss. Subtle white matter signal abnormality in periventricular white matter was also seen on T2/FLAIR sequences (not shown).