Content

Introduction

Introduction

Albinism is a rare, hereditary and non-degenerative disease, which consists in the reduced or no production of melanin, the pigment that colors the skin, hair and eyes. In people with albinism, the pigmentation of the skin, hair and eyes takes on different shades based on the amount of melanin in the body Since melanin plays an important role in the development of the optic nerve, people with albinism have vision problems.

Types of albinism

There are two main types of albinism:

  • oculocutaneous albinism, the most common type. There is little or no melanin production in the skin, eyes and hair. It is due to the fact that a person has inherited two copies of an altered gene, one from each parent
  • ocular albinism, mainly affects the eyes, causing vision problems. It is transmitted to sons from the mother who has a mutation of a gene (ie a modified and defective gene) on the X chromosome. In fact, males have only one X chromosome and if they inherit the mutated one from their mother they develop albinism. Females, on the other hand, having two X chromosomes do not develop the disease (the other X chromosome "protects" them). It is much less common than the previous one
Symptoms

Symptoms

Hair and skin color

The hair and skin color of albino people depends on the amount of melanin their body produces. The most recognizable form of albinism is manifested by white hair and very fair skin. Hair color, however, can range from white to blonde and brown to red, while the skin is always very light and burns easily in the sun. Although skin pigmentation usually never changes in most albino people, some minor changes occur in the years from childhood to adolescence.

eyes colour

Eye color also depends on the type of albinism and the amount of melanin produced by the body. Generally, people belonging to ethnic groups with more marked pigmentation tend to have darker colored eyes.

Visual disturbances

The main vision disorders related to albinism include:

  • weak eyesight (low vision), myopia and hyperopia
  • astigmatism
  • photophobia (particular sensitivity to light)
  • oscillatory, rhythmic and involuntary movements of the eyes (nystagmus)
  • strabismus
Causes

Causes

Albinism is a hereditary disease, that is, it is transmitted through the genes contained in the chromosomes.

There are two main types of inheritance for this disease:

  • autosomal recessive inheritance, most frequent transmission mode. Genes are present in pairs and one copy is inherited from the mother and one from the father. Autosomal recessive disease develops only when the mutated gene is inherited from both parents. This can only happen if both parents carry the mutated gene. If one of the two is a healthy carrier but the other is not, there is no possibility of having a sick child.

    If, on the other hand, both parents carry the mutated gene, we have:

    • 25% chance (1 in 4) that each child will not inherit the defective genes, does not have and cannot pass it on
    • 50% chance (1 in 2) that each child will inherit only one copy of the defective gene, from one of the parents and is, therefore, a healthy carrier
    • 25% chance (1 in 4) that each child will inherit copies of the mutated gene from both parents and is, therefore, at risk of developing the disease
  • X-linked inheritance, is a mode of inheritance that affects males and females differently. Females have two X chromosomes, if they inherit only one with the damaged gene, they will become healthy carriers, will not develop the disease but will in turn be able to transmit the defective gene to their children; males have only one X chromosome, if they inherit the one with the defective gene, they will surely suffer from the disease
Diagnosis

Diagnosis

The assessment (diagnosis) of albinism is carried out as a result of:

  • thorough medical examination, to control skin and hair pigmentation
  • eye examination, to check for nystagmus, strabismus and astigmatism
  • comparison of the child's pigmentation with that of other family members
  • health history over time (history), with particular attention to sudden and excessive bleeding, bruising and suspected infections

To confirm the diagnosis of the disease and determine the type of albinism and inheritance, the doctor may request genetic testing.

Therapy

Therapy

Albinism cannot currently be cured but it is a disease that does not get worse with age.
Therapy is aimed at relieving ailments (symptoms). It is necessary to monitor any changes that may occur, especially regarding vision.

Eye problems

The specialist prescribes regular eye exams, eyeglasses and sunglasses with a custom filter for ultraviolet (UV) rays. In some cases, surgery may be necessary to reduce repetitive and uncontrolled movements of the eyes (nystagmus), while surgical correction is not decisive for strabismus.

The school-age child can be helped by specific supports for people who cannot see well (visually impaired).

Skin problems

Due to a lack of melanin, albino people have an increased risk of sunburn and skin cancer. Sun exposure should be limited in time and accompanied by the following precautions:

  • apply a sunscreen, with a protection factor greater than 30
  • wear sunglasses, with UV protection
  • wear clothes that completely cover the body

An annual dermatological examination is recommended that includes mapping of the moles and evaluates any changes in their size, shape and color.

Prevention

Prevention

In the event that a family member is affected by albinism, it is advisable to consult a medical geneticist before planning a pregnancy to obtain information on how the disease is inherited and the probability of transmission.

Complications

Complications

The complications that can occur following albinism are directly associated with vision problems and a lack of skin pigmentation.

Ocular complications

Vision disorders can have an impact on learning, performance of work and the ability to drive.

Skin complications

People with albinism have skin that is very sensitive to light and sun exposure. Sunburn is one of the most serious complications because it can increase the risk of inflammation and developing skin cancer.

Living with

Living with

Albino people, especially children, may need strategies to improve the quality of life in several areas.

Children and lifestyle

Parents can help the child learn to take care of himself from an early age by establishing habits that help him manage potential difficulties.

They include:

  • use aids for the visually impaired, at school and at the time of study
  • apply sunscreen, with a protection factor of 30 or higher which guarantees protection from ultraviolet UVA and UVB rays
  • avoid exposure to the sun during the hottest hours or for prolonged periods
  • wear clothing with long sleeves, collared shirts, long pants and socks
  • protect your eyes with sunglasses, equipped with UV filters or photochromic lenses

School

It is useful to inform teachers about the specific needs of the child and his degree of autonomy, agreeing with them on strategies that help him to adapt to the school environment and procedures.

Some useful tips include:

  • easy to reach classroom seat
  • correct lighting, that does not produce reflections
  • materials written in large fonts and high contrast printing
  • where available, a tablet synchronized with the classroom blackboard, so that the child can sit in the furthest rows in the classroom
  • enough time to read the materials and complete classwork

Emotional and social challenges

The appearance of albino people can arouse reactions ranging from curiosity to bullying.

To prevent the child from giving up socialization and developing low self-esteem, parents can:

  • encourage him to talk about his feelings and what happens to him
  • help him find answers to embarrassing questions or teasing
  • talk to a psychotherapist, which can help them cope with this type of situation by implementing effective communication strategies
In-depth link

In-depth link

NHS. Albinism (English)

Mayo Clinic. Albinism (English)

National Center for Advancing Translational Sciences (NIH). Albinism (English)

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