Oculocutaneous albinism is a depigmentation of the skin, eyes and hair. This condition which is due to a gene mutation, is almost always accompanied by vision problems. Our eyes’ iris are normally composed of melanin which is a substance that people with albinism almost never produce. This low production of melanin is caused by a genetic mutation that prevents people with albinism from producing melanin pigments using their melanocytes. Now let’s look at the causes, symptoms and treatment of this genetic mutation called albinism.
Causes and types of Albinism
Born with albinism
An albino person has a hereditary disease that has been produced by a gene mutation. This mutation affects a gene coding that effects melanin production. This is when the gene that should normally tell the body to product pigments is not able.
The mutation is hereditary and is transferred by autosomal recessive inheritance. We all have a gene given to us by our father and a gene given by our mother. For this this disease to be transferred, both parents must give a gene that is already carrying the mutation. As the gene carrying the disease is called “recessive”, the person must have inherited the mutated gene twice for the disease to express itself (red eyes, white skin, white hair, etc.).
This disease is more common in Africa however it can also affect Caucasian populations. Hereditary is the only risk factor for this disease as it is a genetic illness.
Different types of mutations
Here are some of the different types of albinism:
- Type 1 : A genetic mutation that allows melanin production;
- Type 1A : A mutation that does not allow skin pigment production resulting in white hair as well as bluish white or red eyes.
- Type 1B : Similar to Type 1A except that a few months after being born the person produces a small amount of skin pigment. This is visible as the person’s eyes become blue or yellow.
- Type 2 : This is the most common form of albinism. The person has white skin and blonde hair as a child that gets gradually whiter into adulthood. There can be red or brown coloured marks on there skin. Like the Type 1B mutation, the person can have blue or yellow/brown eyes.
- Type 3 : This is a rare type of mutation that only affects people with black skin. The person has white skin, with green or brown irises and red hair.
There are also other forms of Albinism such as Hermansky-Pudlak syndrome, or even Griscelli-Prunieras and Chediak-Higashi syndrome. Chediak-Higashi syndrome alters the colour of the persons hair so that it has a silvery grey tone similar to the heroine from Game of Thrones, Khaleesi, Daenerys Tagraryen.
The symptoms of Albinism
Diagnosing albinism is often very clear at birth. The child has white or pink skin and white or blonde hair and body hair. The person’s skin is extremely sensitive to UV light which increases considerably the risk of skin cancer. Their skin is very sensitive and fragile as it does not contain any pigments. They will often have freckles and red marks, which increase the risk of skin cancer even more.
A person with Albinism will often have red eyes as the iris is bluish or translucent. This means that the retina at the back of the eye is more pronounced which is red in colour. Often the disease is accompanied by strabismus, a nystagmus illness, and high light sensitivity. People with albinism do not have a very clear vision. However, the eye damage is less significant for people with less severe forms of the mutation.
Is it possible to treat this illness?
It is not possible to treat albinism. There is currently no gene therapy either. There are only methods to protect suffers with albinism. Protective measures include protecting your skin from the sun and wearing sun glasses.
People who have inherited this genetic mutation have a completely normal physical and intellectual development and have no deficiencies. However it is important to explain the risks connected to their skin which is more fragile and subject to a greater risk of skin disease.