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Written By: Editorial Team | Published : June 13, 2019 2:52 PM IST
Albinism is an inherited disorder that occurs due to no or low production of melanin. © Shutterstock
Affecting people of any age, colour, or ethnic background, albinism gene is estimated to be present in 1 in 70 people worldwide, says a study published in the Orphanet Journal of Rare Diseases. Albinism is an umbrella term for a group of inherited disorders that rob your skin, hair or eyes off their natural colour. It is also linked to ophthalmological problems. This diseases occurs due to little or no production of melanin, the pigment that gives us our natural skin and hair tone. However, very few people know about this disorder, let alone understanding it well. So, people living with albinism face a lot of discrimination. In order to spread awareness about this genetic disorder and address the discrimination faced by people affected with it, International Albinism Awareness Day is celebrated every year on 13th June.
International Albinism Awareness Day is a global campaign. The observance of this day started in 2015 to commemorate the UN's first resolution to uphold and safeguard the rights of people living with albinism. Every year, the International Albinism Awareness Day centres around a theme. In, 2019 the theme for this day is 'Still Standing Strong'. The aim of this campaign is to celebrate the accomplishments of persons with albinism.
As we celebrate International Albinism Awareness Day today with the intention of standing by the people living with this condition, here is a detailed overview of the condition. As already mentioned, albinism is a genetic disorder. This condition comes with distinctive features like white hair, light-colored skin, vision impairment, etc. Albinism makes your skin extremely sensitive. So, people with this condition get sunburn quite easily and they are at increased risk of skin cancer.
If one is born with a defect in one of several genes that produce or distribute melanin, he or she may get albinism. The faulty gene inhibits melanin production and passes from one generation to another. Kids born to parents with albinism or those carrying the gene are at a higher risk of the condition.
There are more than one forms of albinism. On this International Albinism Awareness Day, we shed light on the four major types.
It is the most common type of albinism in which the patient inherits two copies of the mutated genes, one from each parent. It occurs in one of the seven genes ranging from OCA1 to OCA7. OCA leads to low pigmentation in the skin, hair, and eyes, causing vision problems. If we talk about its subtypes, OCA1 occurs due to a defect in the enzyme called tyrosinase. OCA 2 is the result of a genetic defect in TYRP1protein. OCA4 occurs because of a defect in the SLC45A2 protein, and OCA5 7 are caused due to mutations in three other causative genes.
It is another type of albinism that occurs due to mutation in a gene called GPR143, found in X chromosome. This gene is responsible for the pigmentation in your eyes. This condition only causes vision problems. More prevalent in men than women, X-linked ocular albinism can be transferred by a mother carrying one mutated X gene to her son. Ocular albinism is less common than OCA.
It is one of the rare hereditary syndromes. The condition manifests itself through pigmentation, visual impairment, and blood platelet dysfunction with prolonged bleeding. It can also cause other disorders like lung fibrosis, colitis. Colitis is an abnormal storage of a fatty substances in several body tissues. A person with HPS experiences easy bruising, nose bleeding, bleeding gums, and excessive bleeding post-surgery. The main cause behind this disorder is mutation in one of the 10 genes including HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, PLDN, and AP3D1.
It occurs due to the mutation in a gene called CHS1/LYST. Symptoms of this disorder are similar to oculocutaneous albinism. A person with chediak-higashi syndrome has silvery hair and slightly grey-coloured skin.
Doctors perform a physical exam, an eye test, and compare the skin colour of the patient with that of the family. The confirmatory diagnosis includes a change in pigmentation and vision impairment. If both the conditions don't come together, the reason behind the pigmentation could be different. Genetic testing is the most reliable way to diagnose albinism.
Being a genetic condition, it doesn't have any cure or preventive mechanism. So, the aim of the treatment is eye and skin care.
People with albinism can experience a range of vision issues. These include nystagmus (repetitive movements of the eyes resulting in reduced vision and depth perception), strabismus (muscle imbalance in the yes), photophobia (sensitivity to bright light), refractive error (farsightedness or nearsightedness) etc. You are most likely to require glasses if you are suffering from albinism. Those without a vision problem should also wear specs to protect their eyes from sunlight, suggest doctors. In case of severe eye impairment like nystagmus, doctors may perform a surgery on the optical muscles. Also, you will have monitor your eye health quite regularly.
When it comes to skin care, it is important for people with this condition to use sunblock (sunscreen). Also, they should go for an annual skin assessment to check it they are at increased risk of developing lesions that can turn cancerous. This is because people with this condition are likely to develop an aggressive form of skin cancer called melanoma, which appears as pink skin lesions. Additionally, albinism patients should avoid prolonged exposure to sun. In case they have to, they must wear protective clothes like long-sleeve shirt, long pants, socks, broad hats, etc. They should also wear dark UV-blocking sunglasses, or photochromic lenses that darken in bright light.
