GENERAL HISTOLOGY

Detailed explanation-1: -The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA is a group of disorders passed down in families where the body makes little or none of a substance called melanin. The type and amount of melanin in your body determines the color of your skin, hair and eyes.

Detailed explanation-2: -The enzyme produced by the TYR gene, called tyrosinase, is required for the synthesis of melanin pigment. A mutation in the TYR gene causes the most common form of albinism. People with albinism have either a partial or complete lack of pigment, or coloring, in their eyes, skin or hair.

Detailed explanation-3: -The cause of albinism is a defect in one of several genes that produce or distribute melanin, the pigment that gives skin, eyes, and hair their coloring. The defect may result in the absence of melanin production or a reduced amount of melanin production.

Detailed explanation-4: -Albinism is caused by deficiency ofmelanin, the main pigment of the skin and eye (Table 103.1). Melanin is synthesized by melanocytes from tyrosine in a membrane-bound intracellular organelle, the melanosome.