I was asked if I could treat it – no, definitely not, I have no idea, it is a specific genetic defect. But a little research can’t hurt to refresh my knowledge.
Research on albinism
Albinism: causes, risks and protection for eyes and skin
What is albinism?
Albinism is a congenital, genetic abnormality that causes the body to produce little or no melanin. Melanin is the pigment that determines skin, hair and eye color and also protects the eyes and skin from harmful UV radiation.
There are different forms of albinism that affect either the entire body pigmentation (oculocutaneous albinism) or primarily the eyes (ocular albinism).
Albinism is not contagious and affects men and women equally. It is present from birth and lasts a lifetime.
What are the effects of albinism?
The main effects affect the skin, eyes and, in some cases, visual acuity.
1. Effects on the skin
Because people with albinism have little pigment, their skin is particularly sensitive to solar radiation. The risk of sunburn and long-term skin damage, including skin cancer, is increased.
👉 Important protective measures:
- Always apply a sunscreen with a high sun protection factor (SPF 50)
- Wear long, light clothing that reflects UV rays
- Use a sun hat and sunglasses
- Avoid direct midday sun
2. Effects on the eyes
The biggest challenges of albinism affect the eyes. Melanin plays a crucial role in the development of the retina and optic nerve. A lack of pigment leads to several vision problems:
a) Visual impairment and ametropia
People with albinism often have reduced visual acuity. The exact degree of visual impairment varies from individual to individual.
Possible problems:
- Nearsightedness or farsightedness
- Astigmatism (distorted vision)
- Difficulty with spatial vision
👉 Aids:
- Glasses or contact lenses can help
- Magnifying aids for reading
b) Nystagmus (eye tremors)
Many people with albinism have uncontrolled tremors of the eyes (nystagmus). This can cause vision to be blurred, especially when the eyes are moving.
What can help?
- A slightly tilted head position can sometimes reduce the shaking
- Special glasses or surgery can help, but are not always necessary
c) Light sensitivity (photophobia)
Due to the lack of pigment, light can penetrate the eye unhindered, which leads to strong glare.
Protective measures:
- Wear tinted or polarized sunglasses
- Wear hats with wide brims
- Special filter glasses can help
d) Maldevelopment of the optic nerve
In albinism, the optic nerve may not be optimally developed. This leads to difficulties with spatial vision and the processing of image information in the brain.
e) Strabismus (squint)
Some children with albinism squint because their eyes do not work together optimally. In some cases, vision school or surgery can help.
How can you improve your vision?
- Regular eye examinations to find the best possible correction
- Adaptation of the environment (e.g. good lighting, high-contrast colors)
- Magnification aids for school and everyday life
- Special educational support if vision is severely impaired
Conclusion: A normal life with albinism is possible!
Albinism does pose some challenges, but with good preparation and protective measures, people with this special condition can lead a normal and fulfilling life. The most important thing is:
✅ Good sun protection for skin and eyes
✅ Regular ophthalmological examinations
✅ Adapted visual aids and everyday aids
Studies for therapies for albinism
In addition to gene therapies where the affected gene is repaired, one could also simply administer the blocked amino acid.
L-Dopa is currently being tested, and this can improve or normalize the damage to the retina, at least in the mouse model. This is not yet the case for humans, there are no clinical studies yet but a lot of research, you can find L-Dopa and Albinism > 10,000 studies
Based on the studies available to date I wouldn’t dare give this medication yet, but it’s worth checking annually to see if there is any newer research on it
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