Ocular Albinism
Alex is an adorable two-year-old boy who has been diagnosed with ocular albinism. A couple of months back, Alex's parents noticed a change in his iris color. They recognized that in his retina, he did not have melanin pigment that is essential for normal eye development. It's vital because it is responsible for seeing fine details.
It was heartbreaking for Alex's parents to find out that their little boy had poor vision. They vowed to learn as best as they could to help him enjoy a normal livelihood. However, getting the right information to educate themselves about ocular albinism can be tricky in the age of widespread misinformation. There are several misconceptions about ocular albinism on the internet that scare people.
In this article, let us understand what ocular albinism is and decode some of the myths about it and help people like Alex and his family.
What is Ocular Albinism?
Ocular albinism is a rare type of genetic condition associated with the deficiency of melanin pigment in the retina. Blurred vision, change in iris color, freckling, or pigmented patches on sun-exposed areas, squinting, and visual impairment are the common symptoms of ocular albinism.
Myth 1: Ocular Albinism Occurs Only in Males
Although this condition is more common in men, it does not imply that women will not be affected with ocular albinism. It is caused by a mutation in the GPR143 gene and is inherited through the X chromosome. Women are carriers of ocular albinism but in some cases, they may also have it themselves.
Myth 2: Ocular Albinism is Contagious.
Albinism is a genetic disease inherited from parents; both parents must be carriers in order for their children to have it. It is occurring due to a mutation. Unlike something like COVID-19, it is not a virus or bacteria that can be caught. Hence, ocular albinism cannot be contagious.
Myth 3: Albinism Affects Intelligence.
This is simply not true! Anyone who tells you this is wrong. Albinism merely depletes the melanin pigment in the body that leads to vision impairment. It does not affect any parts of the brain. Those who have albinism have similar levels of intelligence to those who don't have it.
4. Albinism just means white skin and white hair.
As we've come to understand, albinism does not only affect appearance but also the eyes. Of course, it affects everyone differently but low vision is an overlooked symptom. Additionally, not everyone with albinism has white skin. There are varying levels of melanin depending on the condition, and many of those with African descent have some pigment. It's important to realize that there is a lot of diversity within the albinism community.
Ocular albinism specifically mainly affects the eyes.
A picture of a child with ocular albinism. Picture from Arizona RETINA Project.
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