Albinism is a condition wherein the human body does not produce enough of the pigment melanin. In some cases, there may be absolutely no melanin produced. The lack of melanin results in a discoloration of the skin, hair and iris of the eye. Persons suffering from albinism have extremely light hair, pale skin and no color in the iris. This allows the blood vessels at the back of the eye to be seen and make them appear red-eyed.
The strange appearance of the person suffering from albinism often subjects them to social stigma. However, it is not a condition that can be transferred by contact, as it is caused by a genetic defect. It is not contagious, infectious, malignant or cancerous. It does not affect the lifespan of the patient but can cause complications in their lifestyle.
UKEREWE - TANZANIA - JULY 2, 2015: Unidentified albino father and son. Image Credit: Dietmar Temps / Shutterstock
Causes of Albinism
There are primarily two kinds of albinism, oculocutaneous albinism or OCA and ocular albinism or OA. Both are caused by different types of genetic mutation passed from the parent to the child. A person suffering from albinism is at risk of having a child who also suffers from albinism.
With OCA, however, if each parent has one normal pigment gene (carrier), 25% of the children will be clinically affected but 50% of children may be carriers of the albinism gene, while 25% have a chance of being born with clinical albinism.
Some types of OA generally affect male children. They inherit the defective gene from their mothers in what is termed as X-linked inheritance. These children will have problems with their eye sight, but the skin and hair color is usually not grossly affected. Thus, it may generally be seen as normal or somewhat lighter than that of others in the family. Female children usually have a much milder form of OA as they have one normal X chromosome along with the mutated X chromosome.
Hermansky-Pudlak syndrome is a very uncommon form of albinism. It is seen most often in Puerto Rico and may be caused by a genetic defect in any one of 8 different genes. The symptoms may be very similar to OCA, but in addition the patient may have lung disease, bowel problems and bleeding disorders. Patients tend to bruise easily and need to be careful with their movements.
Chediak-Higashi syndrome is another rare form of albinism which is similar to OCA. Here the hair is usually a brown or blond color with a silver sheen to it. The skin tends to vary from creamy white to a greyish tinge. The cause is a mutation in the LYST gene. As this mutation also results in a defect in the white blood cells, the patient is at greater risk of developing infections.
Complications Arising from Albinism
# The absence of melanin causes the loss of natural pigmentation of the skin which results in the skin losing any protection it has against ultra violet rays.
- Sunlight can cause damage to the skin more easily in this condition. People with albinism are at a greater risk for developing skin cancer.
- The retina, or the light-sensitive area at the back of the eye, is damaged by the unfiltered light entering the eye through the iris due to the lack of normal pigmentation of the iris.
- The genetic mutation may also render the optic nerve within the eye dysfunctional due to improper development.
- Those with Hermansky- Pudlak syndrome may suffer from lung disease or bleeding problems.
There is no cure for albinism. Counselling the patient is usually helpful. Treatments recommended to the patient are based on the symptoms that they suffer from and may vary on a case-to-case basis. The severity of the symptoms will determine the options of treatment available to them. These are predominantly under two heads: skin care and vision care.
Since the skin of a patient suffering from albinism is likely to be prone to sunburn, wearing long sleeves and full length garments is mandatory to help to protect the skin against ultraviolet exposure. These individuals should also use a sunscreen with a high sun protection factor (SPF 30 or higher is recommended). They should check for changes on the skin such as a new or changing mole, an abnormal growth or a lump. Freckles and patches of skin that have changed color should be checked out by the medical health care provider.
Glasses or contact lenses may be used to correct eyesight issues such as short-sightedness, long-sightedness and astigmatism. Sun glasses capable of filtering out ultraviolet rays would help patients dealing with photophobia, or sensitivity to light. Eye exercises may be recommended to deal with squinting and lazy eye. Children in school may use large print textbooks to ease their reading.
Reviewed by Liji Thomas, MD.