Everything you need to know about Albinism

“Albinism affects the way the world is seen, not the worth of the person seeing it,” emphasises Dr Kennedy, an Ophthalmologist from Mediclinic Cape Town. 

Albinism is a genetic disorder that is inherited when one or both parents carry the gene responsible for reduced melanin production.

“Melanin is the natural pigment made by the body that gives colour to your skin, hair and eyes and helps to prevent damage from the sun. Melatonin also helps the eye to develop properly, but when there’s a deficiency, it can result in challenges in the optic nerve (the nerve and connections between the eye and the brain) and the iris (the coloured part of the eye). This can result in poor vision, increased light sensitivity and nystagmus (shaky eye movements)”, Dr Kennedy explains.

There are various types of albinism, but the two most common forms of albinism are Oculocutaneous Albinism (OCA) and Ocular Albinism (OA).

Oculocutaneous Albinism (OCA): OCA is the most common type of albinism, occurring when both parents carry the albinism gene. “Skin, hair and eyes are affected, resulting in pale colouring and poor vision due to impaired pigment production of the eye. The visual impairment can be mild to severe,” according to Dr Kennedy.

Ocular Albinism (OA): affects the eyes only and usually occurs in males. Skin and hair may look normal, but the vision is affected due to a lack of ocular pigment. Visual impairments from OA can often be treated if detected early enough during childhood. Common symptoms include colour blindness, blurred vision, light sensitivity, eye misalignment and nystagmus. 

Living with albinism

Those with albinism are at a higher risk of getting sunburnt and developing conditions such as skin cancer. While there is no cure for albinism, there are important precautions one can take to manage and treat symptoms, which include:

• Wearing hats, clothing that limits the amount of skin exposed to the sun and polarised sunglasses.
• Regularly applying and reapplying sunscreen throughout the day and avoiding the harsh afternoon sun. If you have a child with albinism, make sunscreen a family habit for easy adoption.
• Monitoring your skin for any signs of new moles, which change in colour, size or shape, could help you detect signs of skin cancer, which has a higher chance of being cured when it is spotted early.
• Consistent visits to your optometrist/ophthalmologist for a thorough eye and visual assessment.

Whether you have lived with albinism your whole life, have a child with albinism or would like to find out if you have a carrier gene, it’s never too late to learn more about the disorder, especially if you would like to understand the genetics behind albinism. Speaking with a specialist will also provide valuable insights for you and your family is the key.