Albinism and the associated ocular defects.
Several types of hypopigmentation in humans are called albinism. The phenotype for different types of albinism varies according to the amount of pigment in the hale, skin and iris, the reduction in visual acuity and the degree of nystagmus and strabismus. Cutaneous and ocular melanin pigment can range from complete absence throughout the lifetime of the individual to the development of nearly normal levels, including the ability to tan. Visual acuity ranges from 20/40 to 20/400, and visual development in an affected infant is slower than normal. Foveal hypoplasia and altered routing of the optic nerves are found in all types of albinism and are the most constant feature of this condition. The demonstration of optic track misrouting by visual evoked potential studies provides the critical diagnostic procedure for questionable cases of albinism, and this is the single definitive diagnostic test to confirm a diagnosis of albinism.
Oetting
W S
WS
Department of Medicine, University of Minnesota, Minneapolis 55455, USA.
Summers
C G
CG
King
R A
RA
D016117:Albinism, Ocular / Q000235:genetics / Q000473:pathology*; D016115:Albinism, Oculocutaneous / Q000235:genetics / Q000473:pathology*; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics
D014442:Monophenol Monooxygenase