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Albinism

Disease Overview

Albinism is the congenital absence of any pigmentation or coloration in a person, animal or plant, resulting in white hair, feathers, scales and skin and pink eyes in mammals, birds, reptiles, amphibians and fish and invertebrates as well.

Defining Characteristics

Hypopigmentation

Disease Development

Tyrosinase mutation causes inability of melanocytes to produce melanin

Lab/Imaging

Histology? Melanocytes present (just not making melanin!)