International Albinism Awareness Day.

     Albinism is a congenital disorder characterized in humans by the complete or partial absence of pigment melanin in the skin, hair and eyes. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers and is also associated with a number of vision defects, such as photophobia (extreme sensitivity to light.), nystagmus (rapid involuntary movements of the eyes.), and amblyopia (impaired or dim vision without obvious defect or change in the eye).

     Humans with albinism often face social and cultural challenges (even threats), as the condition is often a source of ridicule, discrimination, or even fear and violence. It is especially socially stigmatized in many African societies. A study conducted in Nigeria on albino children stated that they have experienced alienation, avoided social interactions and were less emotionally stable. Furthermore, they were less likely to complete schooling, find employment or suitable partners.

What causes albinism and who’s at risk for albinism?

     Albinism is an inherited disorder that’s present at birth. Young ones are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism. The defective gene passes down from the parents (both) to the child and leads to albinism.

A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production.

     Most people who carry an albinism gene don't show any symptoms or signs of the condition; a baby with albinism can be born to parents whose coloring is typical for people of their ethnic group. The most common form of ocular albinism who have inherited an albinism gene from their mothers, affects only males.

What are the types of albinism?

     In albinism, depending on which gene has undergone mutation, there are different types. In some there is no pigment at all while there is a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people.

There are two principal types of albinism: 

     Under oculocutaneous albinism there are different types, depending on which gene has undergone mutation. With some there is no pigment at all. While on the extreme other end of the spectrum of albinism is a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people.

     According to the National organization for Albinism and Hypopigmentation, with ocular albinism, the color of the iris of the eye may vary from blue to green or even brown, and sometimes darkens with age. However, when an ophthalmologist examines the eye by shining a light from the side of the eye, the light shines back through the iris since very little pigment is present.

     Because individuals with albinism have skin that completely lacks the dark pigment melanin, which helps protect the skin from the sun's ultraviolet radiation, their skin can burn more easily from overexposure thus making them susceptible to skin cancers.

      The human eye generally produces enough pigment to color the iris blue, green or brown and lend opacity to the eye. In pictures, those with albinism are more likely to demonstrate "red eye", due to the red of the retina being visible through the iris. Lack of pigment also results in problems with vision, both related and unrelated to photosensitivity.

     Those with albinism are normally as healthy as the rest of the population, with growth and development occurring as normal, and albinism by itself does not cause mortality but the lack of pigment melanin, causes issues in blocking the ultraviolet radiation thus increasing the risk of melanomas (skin cancers) and other problems.

What are the symptoms of albinism?

People with albinism will have the following symptoms:

How is albinism diagnosed?

     Genetic testing is the most accurate way to diagnose albinism; it is done through detecting the defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor or an electroretinogram test. The test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.

What are the treatments for albinism?

     There’s no cure for albinism. Since there is no cure for albinism, it is managed through lifestyle management. People with albinism need to take care not to get sunburn and should have regular healthy skin checks by a dermatologist.

However, treatment can relieve symptoms. Treatment may include: 

 What’s the long-term outlook?

     Most forms of albinism don’t affect life span. But people with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun and the UV rays from the sun can cause skin cancer and vision loss in some people with albinism. However, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome do affect life span. This is because of the health problems associated with the syndromes.