Albinism: Causes, Symptoms, And Treatments

Albino

Albinism is a rare group of genetic disorder characterised by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photo phobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.

Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives colour to your hair, skin, and iris of the eye. These defects may be passed down (inherited) through families. Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin. The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris colour. They also have vision problems. Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye colour are usually in the normal range. However, an eye exam will show that there is no colouring in the back of the eye (retina). Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. 

 Symptoms;

A person with albinism will have one of these symptoms:

*No colour in the hair, skin, or iris of the eye 

*Lighter than normal skin and hair 

*Patches of missing skin colour 

 

A Child With Albinism--Ngcnn

Many forms of albinism are associated with the following symptoms: 

*Crossed eyes 

*Light sensitivity 

*Rapid eye movements 

*Vision problems, or functional blindness.

Albinism is caused by a mutation in one of several genes. The genes in question are responsible for various aspects of the production of melanin by melanocytes in the skin and eyes. Most commonly, the mutations interfere with the enzyme tyrosinase (tyrosine 3-monooxygenase) which synthesises melanin from the amino acid tyrosine. Depending on the mutation, melanin production can either be slowed or completely stopped. But, regardless of the amount of interference with melanin production, there are always associated problems with the visual system in albinism. These vision problems occur because of melanin's vital role in the development of the retina and the optic nerve pathways from the eye to the brain. 

Treatment involves protecting the skin and eyes from the sun. To do this: 

*Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun. 

*Use sunscreen with a high sun protection factor (SPF). 

*Wear sunglasses (UV protected) to help relieve light sensitivity. Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements.