Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with sp...

Homozygosity for a large deletion in the solute carrier family 45, member 2 (SLC45A2) gene causes oculocutaneous albinism (OCA) in the Doberman Pinscher breed. An albino Lhasa Apso did not have this g.27141_31223del (CanFam2) deletion in her SLC45A2 sequence. Therefore, SLC45A2 was investigated in this female Lhasa Apso to search for other possible variants that caused her albinism. The albino ...

PURPOSE Esotropia is a feature of albinism. Amongst esotropic patients there may be mild unrecognised albinos. Oculocutaneous albinism shares several clinical features with congenital esotropia. It is well known that mammals with oculocutaneous albinism have misrouted retinal ganglion cell axons, most likely caused by the absence of melanin or DOPA during development. We investigated the hypoth...

BACKGROUND In albinism the majority of the nerve fibers of the optic nerve originating from an eye are innervating the contralateral hemisphere. As a result of the predominantly monocular innervation of the left and right hemispheres, the unilateral activation of the visual cortex (lateralization) can be detected with visual evoked potentials (VEP). PATIENTS AND METHODS The VEPs were elicited...

PURPOSE In human albinism a part of the temporal retina projects abnormally to the contralateral hemisphere. An objective VEP procedure to quantify the extent of the abnormality was devised. METHODS Monocular VEPs were recorded in 16 subjects with albinism and in 16 controls from occipital electrodes to pattern-onset stimulation in 1 of 10 adjacent rectangular apertures along the horizontal m...

Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, a...

Oculocutaneous albinism is an autosomal recessive disorder. It is associated with a disorder in the synthesis of melanin pigment, clearly manifested by the absence of colour in the skin, iris, and hair. In addition to its importance for a person's physical appearance, melanin plays a protective role with regard to solar radiation: its absence exposes the skin to a greater risk of related photog...