Albinism

Albinism – Inherited Genetic Disorder 

Albinism refers to a group of inherited genetic disorder which causes the skin, eyes, or hair to have little or no colour and is also associated with vision problems.

Individuals have inherited altered genes which do not create the usual amount of pigment known as melanin and can affect people of any race. Based on the amount of melanin a person may have, they could have very pale hair, skin and eyes, though some may have brown or ginger hair and skin which can tan.

Children with albinism are born to parents who have normal hair and eye colour of their ethnic backgrounds and sometimes they may not realise that they have albinism. Common myth is that people with albinism have red eyes but there are different types of albinism with various amount of pigment in the eyes.

Some people with albinism tend to have reddish or violet eyes while most of them have blue eyes. Some even have hazel or brown eyes though all forms of albinisms are associated with vision problems.

They may also have several eye conditions like photophobia or sensitivity to light wherein they may feel dazzled by bright light, problems with eyesight with the need to wear glasses though vision is at times impaired even with glasses or involuntary eye movements.

Lack of Pigment – Melanin 

Albinism is caused due to the lack of pigment melanin that gives the skin, hair and eyes their colour and in the case of albinism, the cells producing melanin does not function because of genetic mutations or faulty genes.

Various genes are responsible for the different types of albinism. The most common type of albinism is Oculucutaneous albinism – OCA with several types of genes have been identified which may cause OCA. There are two main types of albinism in humans namely oculocutaneous which affects the eyes, skin and hair while ocular affects only the eyes.

Several individuals with oculocutaenous albinism seems to appear white or pale since the melanin pigments which are responsible for the black, brown and some yellow coloration are absent. Ocular albinism results in pale blue eyes which may need genetic testing for diagnose.

In the case of albinism, their skin tends to burn easily when exposed to the sun since they lack the dark pigment melanin which helps in protecting the skin from the sun’s ultraviolet radiation

Vision Problem

In normal case, the human eye tends to produce sufficient pigment to colour the iris brown, blue, green, lending opacity to the eye. Besides, in photographs, people with albinism tend to demonstrate `red eye’ due to the red retina that is visible through the iris and lack of pigment in the eyes also are the cause of vision problems which is related as well as unrelated to photo sensitivity.

Albinism does not need treatment though the associated skin and eye problem need to be treated. It does not get worse and those afflicted with albinism tend to lead a healthy life like the rest of the individuals though the lack of pigment blocking ultraviolet radiation increases the risk of melanomas or skin cancers together with other problems.