Contents
- What is albinism?
- What can be the cause of albinism?
- Is albinism inherited?
- Ocular albinism and oculo-cutaneous albinism
- What are the consequences of albinism? Visually impaired
- Children with albinism: what is nystagmus?
- Albinism: what is photophobia?
- Albinism: what are the visual disturbances, or ametropia?
- Albinism: how often does it exist?
- Albinism: what support?
- Albinism: what treatment?
What is albinism?
People with albinism are generally characterized by very fair skin and hair. It’s a disease genetics which has often caused serious damage to vision. It concerns approximately 20,000 people in France.
What can be the cause of albinism?
The main cause of albinism is from a defect melanin production in the body of those affected. Its role is to protect the skin against ultraviolet rays. It also allows the eyes to be able to absorb ultraviolet. It is in particular that which defines the color of the eyes.
Is albinism inherited?
Albinism is indeed a disease that can be transmitted from the parents of the person affected. The gene containing the abnormality in the production of melanin can thus be transmitted to the child.
Ocular albinism and oculo-cutaneous albinism
The affection thus affects the skin, but also the hair and the eyes, with a set of very pale color. It causes a strong visual impairment. Its prevalence is around 5% worldwide.
Depending on the parts of the body affected by albinism, the type changes. Ocular albinism only affects the eyes. It comes from chromosome X and is worn by women. Only their child boys can be affected.
When the disease affects other parts of the body (skin, hair, body hair), it is oculocutaneous albinism (AOC). It is distinguished by a very light pigmentation or the absence of pigmentation in the eyes, body hair, hair and skin.
The discomfort of the latter disease is aesthetic but can also increase the risk of cancer. Oculocutaneous albinism can be associated with blood-immunological, pulmonary, digestive and neurological abnormalities.
Consult the website of the Haute Autorité de Santé for a detailed description of the symptoms of AOC.
What are the consequences of albinism? Visually impaired
La poor visual acuity is one of the main symptoms of albinism.
It can be moderate to severe. Apart from an associated pathology, this visual impairment remains stable. Color vision is generally normal. Visual acuity is improved in near vision, which allows schooling in a mainstream school.
In the full form of albinism (AOC), the infant has a delay in acquiring psychovisual reflexes. In incomplete forms, this visual impairment may diminish with age.
Children with albinism: what is nystagmus?
Le congenital nystagmus, present in most cases in albinos, often absent at birth, can be discovered during the first months after birth, during the period of maturation of the fovea, area of the retina where vision of details is most precise. It is an involuntary, jerky oscillating motion of the eyeball. Visual acuity depends on it.
It can be detected during a screening exam. It can be accentuated with glare and reduced with the wearing of corrective lenses.
Albinism: what is photophobia?
Photophobia is a extreme sensitivity of the eyes to light. In albinism, photophobia arises from reduced light filtration secondary to melanin deficiency. It exists in other retinal or ocular pathologies such as l’aniridie et l’achromatopsie.
Albinism: what are the visual disturbances, or ametropia?
Regardless of their age, people with albinism should have their eyesight checked. Indeed, the ametropia are frequent with this disorder: strabismus, hyperopia, presbyopia, astigmatism.
Albinism: how often does it exist?
Albinism is a condition that is found all over the world, but is quite rare in Europe. However, it varies from form to form and from continent to continent.
According to the HAS, around 15% of albino patients do not have molecular diagnosis. The reason ? There are two possibilities: the mutations can be located in unexplored regions of known genes and are not detected by basic techniques or there are other genes that cause albinism in these people.
Albinism: what support?
To diagnose, monitor and manage the disease resulting from albinism, dermatologist, ophthalmologist, geneticist, ENT, work together. Their role ? Propose and ensure a multidisciplinary care for patients with AOC.
Children and adults affected by this condition undergo a global assessment (dermatological, ophthalmological and genetic) carried out by these different doctors during day hospitalization. Also, patients benefit from therapeutic education relating to albinism in general and to AOC, in particular.
There is a clinical and genetic database on oculocutaneous albinism, so diagnosis can be made on the basis of a sequencing panel allowing analysis of genes known to be involved in oculocutaneous albinism.
Albinism: what treatment?
There is no treatment to relieve albinism. An ophthalmological and dermatological follow-up is essential in order to correct the visual defects linked to the disease.
For people with albinism, sun prevention is essential, in order to avoid the risk of cancer, the skin being very fragile and sensitive to UV rays. Protection of the skin and eyes is therefore essential in the presence of the sun. Precautions to be taken: stay in the shade, wear protective clothing, hats, sunglasses, and apply 50+ index cream on exposed skin surfaces.