a) NC1’s retina showing severe hypopigmentation with absent macular differentiation; b, c) NC1’s right arm and left leg showing that she has a prominent superficial venous pattern of the extremities; d, e) NC1 at age 38 years. She has white hair with a yellowish hue, short narrow palpebral fissures, midface hypoplasia, full lips and prognathism. Note the visible vein in her left temporal area; f) NC2’s iris showing partial iris transillumination g); NC2’s retina showing reduced retinal pigmentation; h) NC2 at age 8 years; i) NC1 at age 10 years.
Fernandez et al. BMC Medical Genetics 2012 13:111 doi:10.1186/1471-2350-13-111