A few weeks ago, I bumped into two young ladies with albinism at the Royal Park and the first thought I had was “They’re so beautiful!”. I’m not sure when my first encounter with an albino occurred, but I’ve always been fascinated by them. That said, I never find out more about the condition.
But not this time.
What is albinism and what causes it?
Albinism is an inherited condition caused by genetic mutations. Those with albinism possess a mutated gene that produce little to none of the pigment (melanin) that gives human skin, hair and eyes their color. For this reason, albinos tend to have light blue eyes, white hair and light skin. Since melanin is also crucial for the development of optic nerve, most albinos have to live with vision problems throughout their lives.
Now, you may have the perception that all albinos share the same symptoms. But that’s not the case. Albinism occurs on a spectrum and the condition can be mild or severe depending on which genes are mutated.
What are the types of albinism?
The two common types of albinism are oculocutaneous albinism (OCA) and ocular albinism (OA). While the former affects the eyes, hair and skin, the latter affects mainly the eyes. That’s why it’s common to see individuals with OA to have similar or slightly lighter hair and skin color compared to other family members.
OCA is inherited in an autosomal recessive manner. This means each unaffected parent (also known as carriers) carries one functional and one non-functional copy of the causative gene. If the couple decides to have a child, there’ll be a 25% chance that the child will be born with albinism, a 50% chance for it to be an unaffected carrier (just like the parents) and a 25% chance of being unaffected nor a carrier.
Below are four sub-types of OCA:
OCA1 – Caused by a defect in the tyrosinase enzyme. The two sub-types of OCA1 are OCA1a and OCA1b.
OCA2 – Most commonly found in Sub-Saharan Africans, African Americans and Native Americans.
OCA3 – Caused by a defect in the TYRP1 gene and those affected usually have reddish-brown skin, reddish hair and hazel or brown eyes.
OCA4 – Commonly found in East Asian descents.
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Unlike OCA, ocular albinism is inherited in an X-linked manner. This is because the mutated gene that causes OA is located on the X chromosome. Males are more likely than females to get OA because they only have one copy of X chromosome in their sex gene. Females with one copy of the mutated gene typically don’t experience vision loss or eye abnormalities. However, they may still experience mild changes in retinal pigmentation.
According to Vision Australia, the common visual defect in OCA and OA include muscular hypoplasia (abnormality in the retina causing decreased clarity of central vision), Nystagmus (rhythmical involuntary to and fro movement of the eyes), photophobia (intolerance to bright light), refractive errors and Strabismus (turned eye).
Rare forms of albinism
- Hermansky-Pudlak Syndrome (HPS): Has symptoms similar to OCA and those affected also have bowel and bleeding disorders.
- Chediak-Higashi Syndrome (CHS): Causes a defect in the LYST gene, which produces a protein called lysosomal trafficking regulator. Since lysosomes use digestive enzymes to break down toxic substances, prevent infections and recycle old cell components, individual with CHS are highly prone to infections.
- Griscelli Syndrome (GS): The rarest case of albinism (there have only been 60 known cases since 1978). Individuals with GS suffer from immune and neurological problems which contribute to a life expectancy as short as ten years.
Diagnosis, treatment and support
There are two ways to diagnose albinism. One is through genetic testing (the most accurate form of diagnosis) and the other is through doctor’s evaluation or an electroretinogram test (this measures the response of the light sensitive cells in the eyes). Since albinism is a genetic disorder, treatment is fairly limited. However, preventive measures can be taken to increase these individuals’ quality of life, such as using SPF, covering up while out and about and getting regular eye and skin checkups.
Various organizations have also been established to provide specific support to those with albinism:
- Albinism Fellowship of Australia: Main purpose is to provide support, education and fellowship.
- Vision Australia: Supports education, employment, an active social life and aims to equip individuals with important skills.
- The Steve Waugh Foundation: Supports individuals between ages 0-25 years through individual grants, research and awareness campaigns.
I hope I’ve covered the questions you might have regarding albinism. Before I go, I’d like to introduce the selective few who flourished in their respective careers.
Edgar & Jonny Winters // Musicians
Shaun Ross // Model
Salum Khalfani Bar’wani // Tanzania politician
Connie Chiu // Model & Singer
Michael Bowman // Actor
Stephen Thompson// Model