Albinism Disease

Albinism disease

        Albinism, can be divided into two broad categories:

• Albinism oculocutaneous: it includes a set of genetic disorders (10 different forms) in which a defect in the synthesis of melanin affects either the skin or eyes, or both. The disorders are more or less severe depending on the form of the disease.
• Ocular albinism: this form of albinism is characterized by nystagmus (involuntary movements and jerky oscillation of the eyeball), congenital depigmentation of the iris and retina and decreased visual acuity, often accompanied by a less powerful binocular vision and a possible strabismus. People with this type of albinism is called photophobia, that is to say they do not bear the light and must be avoided at all times. From Latin, albus meaning "white", albinism is the absence of yellow pigment, red, brown or black eyes, skin, scales, feathers or hair. Albino animals rarely resist the wild life, because of the absence of pigments, that should provide a protective filter, if present. Heritable in humans and other vertebrates, albinism may result from the complete absence of pigment cells or impairment of the migration process of these to their location during normal embryonic development, lack of hormonal stimulation necessary for the synthesis of the pigment, or metabolic endocellular abnormalities. Albinism in humans is due to the absence of melanin, brown pigment normally present in skin, hair and eyes.

        It affects about thirty newborns each year. It is an inherited disease that is transmitted through nonsexual genes. We have twenty-three pairs of chromosomes, including one sexual pair. The recessive disease,reffers to the fact that both parents must be carriers of two disease genes. In effect, each parent transmits one chromosome of each pair. The child therefore receives one chromosome from his mother and his father. If it is a normal chromosome and a carrier of albinism, it will not develop the disease. However, if patients received two chromosomes, then it will necessarily albino.

Albinism disease explanation

        Albinism is characterized by abnormal melanin, a pigment that colors our skin, our eyes and hair. It is contained in special cells: melanocytes, located in the first layers of the skin, the epidermis and dermis. The albinos are unable to properly synthesize melanin. Then there is a discoloration that can only touch your eyes or skin, hair and eyes. The skin is very clear: the hair is white or very pale blond, the colored part of the eyes are gray or blue. The black dot in the center of the eye, has a red glare. In both cases, patients are very far wrong. The vision is usually 10/10 and may fall well below 4/10. Glasses are not used much but they allow them to read and write using appropriate systems.

Albinism disease pictures

Albinism disease - the consequences

        The severity of the disease is associated with depigmentation. The risk of skin cancer is important. If the skin is more fragile is that melanin plays a protective role in UV filter. But eyes also suffer from the sun. Dermatologists and ophthalmologists must work together to prevent complications and it is their responsibility to make the diagnosis of albinism. Albinism doesn't have serious concesquences but it has unattractive look.