Albinism is a condition in which people have little or no melanin pigment (compound that creates colour) in their eyes, skin or hair. Because of this people with albinism look a little different from other members of their family without albinism. They have very fair skin which is prone to sunburn, their hair is white or a very light colour, and they may squint a lot as their eyes are sensitive to sunlight.

Types of Albinism

There are two types of OCA, type I and type II. The classification of oculocutaneous albinism depends upon the nature of the underlying genetic defect. When a mutated tyrosinase gene produces inactive, less active, or temperature-sensitive tyrosinase, its phenotype is described as tyrosinase-negative (type I-A), yellow-mutant (type I-B), or temperature-sensitive (type I-TS) OCA, respectively. Mutation of the P gene encoding the tyrosine-transporting membrane protein probably occurs in tyrosinase-positive OCA (type II).

Causes of Albinism

Albinism is an inherited problem caused by a flaw in one or more of the genes that are responsible for directing the eyes and skin to make melanin (pigment).

Albinism are the result of the biological inheritance of genetically recessive alleles passed from both parents of an individual, though some rare forms are inherited from only one parent.

Symtoms of Albinism

Absence of pigment from the hair, skin, or iris of eyes.
Rapid eye movements ( nystagmus ).
Lighter than normal skin and hair.
Hearing loss.
Very high susceptibility to skin cancer.
Have a constant, involuntary movement of the eyeball called nystagmus.
Decreased vision due to foveal hypoplasia.

Treatment of Albinism

The specific type of albinism a person has can be determined by taking a good family history and examining the patient and several close relatives. The "hairbulb pigmentation test" is used to identify carriers by incubating a piece of the person's hair in a solution of tyrosine, a substance in food which the body uses to make melanin. If the hair turns dark, it means the hair is making melanin (a "positive" test); light hair means there is no melanin. This test is the source of the names of two types of albinism: "ty-pos" and "ty-neg."

The tyrosinase test is more precise than the hairbulb pigmentation test. It measures the rate at which hair converts tyrosine into another chemical (DOPA), which is then made into pigment. The hair converts tyrosine with the help of a substance called "tyrosinase." In some types of albinism, tyrosinase doesn't do its job, and melanin production breaks down.

Crossed eyes (strabismus) can be treated during infancy, using eye patches, surgery or medicine injections. Treatment may improve the appearance of the eye, but it can do nothing to cure the underlying condition.

|| Home || Contact Us || Resources ||