Albinism

Albinism is a term used to describe people and animals that have little or no pigment in their eyes, skin, or hair. People with this condition have inherited genes that do not produce normal amounts of a pigment called melanin. It is equally common to all races and consists of two major classes. The first, Oculocutaneous albinism includes eyes, skin, and hair. Ocular, the second, involves mainly the eye.

The oculocutaneous variety can be divided into 10 different types, the most common being “ty-negative” and “ty-positive.” Ty-negative leaves the person with no melanin pigmentation, hampers vision to a much more severe degree then ty-positive, and is caused by a genetic defect in the enzyme called tyrosinase. People with ty-positive will have very slight pigmentation and fewer vision problems.

Ocular albinism may give the bearer slightly light hair and skin color, compared with the rest of their family, as well as the more obvious affects to their eye. The pigment loss may allow for involuntary back-and-forth movement of the eyes, crossed eyes, and sensitivity to bright light. Nerves going from the brain to the eye are not routed properly and have more never fibers crossing to the opposite side of the brain than normal.

Both types of albinism are passed from parent to child and almost always require that both parents carry an albinism gene. This is referred to as autosomal recessive inheritance and the parents may have normal pigmentation, yet carry the gene and have a baby with albinism. A new test can now identify carriers of the gene for ty-negative and any other types where the tyrosinase enzyme doesn’t function. A blood sample is used to determine if the gene is present by reading the DNA.

X-linked inheritance differs from autosomal recessive inheritance, because only the mother carries the gene. The albinism gene is passed on the X chromosome from the mother to almost always her son. It can be recognized by ophthalmologist because of subtle eye changes.

Albinism is unselective in race. Caucasians and non-Caucasians share this gene defect equally. One in 17,000 people have some type of albinism. In the autosomal recessive inheritance, if both parents carry the gene-yet neither have albinism, there is a one in four chance that the baby from each pregnancy will be born with albinism.

Treatment of albinism consists primarily of ‘visual rehabilitation.’ Surgery can be used to correct crossed eyes, but does not correct problem with the routing of nerves, so does not give binocular vision. Sensitivity to bright light can be combated with tints or sunglasses. Some specific optical aids, such as bifocals and magnifiers, are also very helpful to this condition. The affects of this disease are not reversible, however because it is a part of their genetic makeup and can only be help with some of these types of aids.

Albinism is a very misunderstood condition and because of this children can have a tough childhood. They are prone to isolation due to the misunderstandings. People question there parenthood, possibly thinking that it is a mixed marriage and outcast them.

They may face criticism and ridicule in the classroom. Other students will not be able to understand why they appear this way and deal with it the best way they know how, laughing, smirking, giggling, etc. Children with albinism may need special emotional support from both their parents and teachers. They should be included in all group activities as well, so they don’t stand out.