HomeresearchAlbino - Albinism - Pubmed Research 2025

Albino – Albinism – Pubmed Research 2025

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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.

 

exact genetic background of albinism

 

Genetic causes of albinism – enzyme defects and biochemical backgrounds

Albinism is a genetic disorder of melanin synthesis caused by mutations in various genes. These mutations lead to defects in the enzymes or transport proteins necessary for the production of the pigment melanin from the amino acid tyrosine.

1. Main cause: defect in tyrosinase (OCA1)

The most common form of albinism, oculocutaneous albinism type 1 (OCA1), is caused by mutations in the TYR gene. This gene encodes the enzyme tyrosinase, which plays a key role in melanin biosynthesis.

  • Enzyme: Tyrosinase (TYR)
  • Function: Converts the amino acid tyrosine into dopaquinone, a precursor of melanin.
  • Defect: Mutations in the TYR gene lead to a missing or inactive tyrosinase, so that melanin production is blocked.
  • Consequence: No or very little melanin is produced → light skin, white hair, red/light eyes.

There are two subtypes:

  • OCA1A → complete loss of tyrosinase function → no melanin production
  • OCA1B → partially functional tyrosinase → low melanin production (mild Pigmentation possible)

2. Other genetic causes of albinism

In addition to OCA1, there are other forms of albinism caused by mutations in other genes:

Type Defective gene Affected protein/enzyme Function Effect
OCA2 OCA2 gene P protein Transports tyrosine into melanosomes Partial pigment loss, milder form of Albinism
OCA3 TYRP1 gene Tyrosinase-related protein 1 Supports tyrosinase function Mostly in African populations, red/brownish skin and hair
OCA4 SLC45A2 gene MATP (Membrane-Associated Transporter Protein) Transport protein in melanosomes Similar to OCA2, mainly affects Asian populations
Ocular albinism (OA1) GPR143 gene G-protein-coupled receptor Regulates melanosome development Mainly affects eyes, vision problems without major skin changes

3. Biochemical blockage in melanin synthesis

Melanin synthesis begins with the amino acid tyrosine, which is converted in several enzymatic steps into eumelanin (brown/black) or pheomelanin (red/yellow).

Normal melanin production:

  1. Tyrosine → (tyrosinase) → L-Dopa
  2. L-Dopa → (tyrosinase) → dopaquinone
  3. dopaquinone → further steps → eumelanin or pheomelanin

In albinism (especially OCA1), this process is blocked because tyrosinase is not active or is missing. This means that tyrosine cannot be further processed into melanin and pigment formation does not occur.

4. Inheritance pattern

  • Oculocutaneous albinism (OCA1-OCA4)autosomal recessive (both parents must havene mutation).
  • Ocular albinism (OA1)X-linked recessive (affects almost exclusively men, women are mostly carriers).

Conclusion

The main cause of albinism is a genetic defect in tyrosinase (TYR) or in other proteins that are important for melanin synthesis and the transport of tyrosine in melanosomes. The amino acid tyrosine cannot be processed properly, so no or little melanin is formed. This leads to the typical symptoms such as light skin, light-sensitive eyes and vision problems.

 

 

 

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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