Albinism is a congenital
disorder characterized by the complete or partial absence of pigment called
melanin in the skin, hair and eyes. It is
also known as hypopigmentation, oculocutaneous albinism or ocular albinism.
This is an autosomal
recessive type of inherited disorder
, which means that the chance of the
disorder being passed from one generation to the next is low. Statistics show
that about 1 in 17,000 people suffer from some form of albinism.
Albinism is an inherited
defect affecting melanin production and
is a naturally occurring pigment, which is responsible for the color of our
skin, hair and eyes. It protects the skin from the harmful effects of
ultraviolet light. Therefore, people in the tropics are darker as their sun
exposure is more, in comparison to the people who live in temperate climates.
If the gene encrypting this pigment is defective, the body becomes pale and
People who are affected by albinism are called
albinos. They have absence of color in
the hair, skin, or iris of the eye; or lighter than normal skin and hair
Lack of skin pigmentation makes albinos more susceptible to sunburn and skin cancers
. Vision problems
far-sightedness or near-sightedness, nystagmus, strabismus, photophobia and
astigmatism are common in people with albinism.
Albinism can be
diagnosed merely by observation of major or total absence of pigmentation of
the skin, hair and eyes. Genetic testing, electroretinogram, chemical testing
of hair and blood tests aid in diagnosing albinism.
There is no
cure for albinism
. Treatment is aimed to ease the symptoms. Treatment of
the eye conditions consists of visual rehabilitation. It is important that
albinos use sunscreen before sun exposure to prevent premature skin aging or
Albinos can live a normal life span, however, some forms of albinism can be
life threatening. The lives of people with Hermansky-Pudlak syndrome can be
shortened by lung disease. People in tropical countries who do not use skin
protection may develop life-threatening skin cancers.
Albinism may cause social problems, because people with albinism look
different from their families, peers, and other members of their ethnic group. There is no known way to prevent albinism. Genetic
counseling should be considered for individuals with a family history of
albinism or hypopigmentation.