A practical approach to albino diagnosis. VEP misrouting across the age span.

Abstract

In addition to the genetic heterogeneity in albinism, widespread clinical heterogeneity frequently impedes albino detection and differential diagnosis. Further, several auxiliary ocular and/or cutaneous manifestations of this inherited error of pigmentary metabolism are neither pre-requisite nor specific to the albino condition. However, one feature that is specific to albinism regardless of genotype or phenotype is a unique pattern of abnormal visual pathway organization. With an appropriate test paradigm, the albino visual pathway can be revealed by the non-invasive recording of the visual evoked potential (VEP) distribution across the occiput which shows contralateral hemispheric asymmetry following full field monocular stimulation. As described in this report, the VEP albino misrouting detection test has been refined to yield extraordinarily high sensitivity and selectivity across the age span from the neonate to the elderly. As the VEP profile undergoes maturational changes, these changes have been taken into account in the development of an albino age-range VEP test recipe which includes the pattern onset paradigm for older albinos and a luminance flash paradigm for the albino infant. The age appropriate optic pathway misrouting test provides reliable albino detection and definitive differential diagnosis. Further, as the albino VEP signature of contralateral asymmetry is also age specific, the VEP misrouting test can be extended to the objective assessment of visual pathway maturation.