What Is Albinism?
Imagine that each of us has a remarkable “pigment factory” inside our body—melanocytes—that works around the clock to produce a dark pigment called melanin, which gives color to our skin, hair, and eyes. At the heart of this factory is a crucial worker known as tyrosinase, an enzyme essential for melanin production.
Albinism is like a situation in which this key worker has taken an unexpected “leave” due to a genetic change. As a result, the production line slows down or even stops, leading to insufficient or absent melanin synthesis. This is why people with albinism often have very light or pale skin and hair, and why their eyes lack adequate pigment protection, making them especially sensitive and vulnerable.
Albinism is not an obscure or mysterious condition. Globally, approximately one in every 17,000 people has albinism, and on average, one in every 65 individuals carries a gene associated with the condition. Albinism is a genetic disorder, inherited in a way similar to traits such as hair color or height. A child receives one copy of a gene from each parent, and only when both copies carry specific changes does the pigment factory stop functioning. This inheritance pattern is known as autosomal recessive, which is why parents are usually healthy and unaware that they are carriers.
At present, albinism cannot be cured. However, with regular skin examinations and appropriate visual aids, individuals with albinism can significantly improve their quality of life and prevent complications.
Where Does the Condition Begin?
In healthy individuals, hair and skin are typically darker because the body continuously produces melanin, and tyrosinase plays a central role in this process. The most common cause of albinism is a mutation in the TYR gene, which provides instructions for producing tyrosinase. When the TYR gene is altered, the body is unable to produce functional tyrosinase, preventing normal melanin synthesis and ultimately leading to albinism.
How Does Albinism Affect the Body and Daily Life?
In terms of appearance, the skin and hair display distinctive white or very light coloring, which is often noticeable from birth (Figure 1). Visually, the lack of pigment in the eyes leaves them particularly sensitive and fragile. Photophobia, reduced visual acuity, and involuntary eye movements are common associated features and may require visual aids for improvement. From a protective standpoint, without melanin’s natural role as a biological “sunshield,” the skin has very limited ability to protect itself against ultraviolet radiation.
In daily life, albinism is not a condition that worsens with age, but rather a lifelong state that requires ongoing care. Regular skin checkups, diligent sun protection, and attention to visual health are essential aspects of long-term well-being for individuals with albinism.
Figure 1. Albinism Patients
Figure 2. Gray, Blue Eye
Figure 3. Pink Eye
The girl depicted in the painting has skin so fair that it appears almost translucent. Due to the absence of melanin’s protective effect against light, her skin is extremely sensitive to ultraviolet radiation. In real life, even brief exposure to sunlight can result in severe skin burns. This physiological vulnerability has led people with albinism to be referred to as “moon children,” a term that suggests they are better suited to the quiet glow of moonlight rather than the harsh intensity of the sun.
Through the girl’s clear and luminous gaze, we can also observe the impact of albinism on the eyes. Because of the lack of pigment in the iris, individuals with albinism often have irises that appear light gray or blue (Figure 2), or even pale pink due to the visibility of underlying blood vessels (Figure 3). Yet beneath this striking appearance lie challenges that are difficult for others to imagine. The absence of melanin not only alters coloration but also affects the development of the retina and optic nerve. As a result, the vast majority of individuals with albinism experience significant visual impairment, photophobia, and involuntary eye movements.