Albinism consists of a group of inherited abnormalities of melanin synthesis. Melanin is a pigment in the skin, eyes and hair that protects us by absorbing ultraviolet rays from the sun to prevent skin damage. With exposure to the sun, the skin tans because melanin pigments increase in our skin. In albinism, however, there is an inborn (or congenital) reduction or absence of melanin in the skin. In addition to the skin, melanin is important to other areas of the body, such as the eyes and brain. It is a lifelong condition and it occurs in other animals.
What causes albinism?
Albinism results from defective production of melanin from its constituent building block units. An error in a complex pathway leads to the low production of melanin or in some cases, no production at all. Albinism is hereditary and the most common forms are autosomal recessive, which means that the genes responsible for its occurrence need to be present in both parents (carriers) who are typically not albinos themselves.
What are the types of albinism?
There are different ways of classifying the different subtypes of albinism, some of which are based on one’s genetic code or DNA and the error leading to the reduction or absence of melanin. Broadly, albinism can:
- Affect the eyes only, called Ocular albinism (OA). The skin and hair may be minimally lighter than the other members of the family but it is restricted to the eyes which are often bluish in colouration.
- Affect the eyes and skin, called Oculocutaneous albinism (OCA).
Albinism may also affect the skin and other organ systems; including the brain and the nerves of the spinal cord. Oculocutaneous albinism (OCA) is the most common form of albinism.
Who is affected?
Albinism affects around 1 in 20000 people across the globe with some areas having as many as 1 in 2000 people with albinism. It occurs in all races, occurs equally in men and women, and is present all over the world. It is typically discovered at infancy.
What are the features seen in albinism?
Patients with more severe forms of albinism with obvious skin manifestations are easier for a physician to diagnose compared with those with more subtle forms or those with ocular albinism. The skin in albinos is often whitish, snow-white or cream-coloured. The hairs are often brown, yellowish or white and in some rare cases, red or platinum coloured. Skin symptoms include skin photosensitivity.
Due to the reduced availability of melanin pigments in the eyes, there are profound changes in the development of the optic system which leads to reduced visual acuity (vision problems), hypersensitivity to light, retinal pigment changes (that appears as red eyes in some people) and an involuntary rapid movement of the eyeballs (called nystagmus). These changes are seen in virtually all cases of albinism.
What are the health interventions done for albinos?
Albinism is not associated with mortality and life expectancy is the same as for the general population. It also cannot be “cured”. The effects of the reduced melanin production in the eyes, skin and hair does not cause general ill-health and as such, life is essentially normal for albinos. However, the quality of life may be hampered by the severity of affectation of vision, skin photosensitivity, and increased risk of skin cancer.
Albinism also has social ramifications because patients may feel alienated as a result of the difference in appearance from their families, peers, and other members of their ethnic group. This can lead to questions about paternity, especially in coloured communities. In some parts of the world, albinos are marginalised, ostracized and even victims of violent hate crimes.
Healthcare support is rendered via:
- Low-vision aids: This is often via glasses or bifocal, based on the age of the patient and the degree of visual impairment (nearsightedness, farsightedness, or astigmatism).
- Tinted glasses may be used to reduce photophobia. A cap or a visor may also help when going outdoors.
- For the treatment of lazy or crossed eyes (or strabismus), it is preferred to start treatment at infancy with eye patches and/or glasses for correction.
- Regular ophthalmology review is also necessary to prevent ocular complications.
- Patients will also benefit from the use of sunscreen when going outdoors as it reduces the exposure of the skin to the ultraviolet rays of the sun. Prolonged exposure to direct sunlight leads to the development of skin cancers.