Albinism

Albinism

        Albinism is a group of genetic diseases characterized by decreased pigmentation of eyes, skin, hair and dander.
There are two broad categories:

• The abinism oculocutaneous
• Ocular albinism

Albinism oculocutaneous

        There are at least ten different forms of oculocutaneous albinism. Two major forms of oculocutaneous albinism are caused by recessive mutations (both parents are carriers of the gene and there is a chance that the child is albino).

Ocular albinism

        There are at least two different forms of ocular albinism. In both cases, we observe the same symptoms as in albinism oculocutaneous:

• Nystagmus.
• Photophobia.
• Possible strabismus.
• Reduction of visual acuity.

        The main form of ocular albinism is recessive X-linked ocular albinism. The defect is transmitted by mothers (XX) heterozygous. In 50% of cases the mother transmits to her children the chromosome (x). Females carrying the chromosome (x) will in turn transmite (50% of cases).

Albinism Treatment

        There is no truly effective treatment. Avoid exposure to sunlight in order to avoid the appearance of skin cancers. You can use sunblock cream and wearing dark glasses. This is still insufficient in most cases.

Albinism causes

• Inheritance: All forms of albinism are genetic. Albinism oculocutaneous, is transmitted as an autosomal recessive, meaning that the disease affects as many girls as boys and occurs only when you are carrying two mutated genes. Both parents must necessarily have the gene mutated to transmit the disease. They are called healthy carriers because they have the unhealthy gene but are not themselves sick. For two healthy carriers who have a child together there is one in four chance of having a sick child and this risk is the same with each pregnancy. The most common form of ocular albinism is also transmitted on a recessive mode, only the genetic defect is carried by a sex chromosome, X chromosome and women have it in duplicate.
• Depigmentation: in the albinos, the total number of melanocytes (cells responsible for pigmentation) is normal. The anomaly is an enzyme essential for the production of melanin, tyrosinase. The absence of melanin in melanocytes leads to very specific characteristics morphogenesis.

Albinism symptoms

• Hair white or very pale bond.
• Gray iris or blue eyes.
• Pupil to red reflection more or less visible.
• White skin.

        According to the form of the disease, a patient will present one or more of these symptoms, more or less pronounced. Eye anomaly is poorly corrected by wearing glasses.

Albinism pictures

Albinism complications

        In the absence of melanin, the skin is dangerously sensitive to the sun and repeated exposure to the sun can range from simple sunburn to skin cancer. Eyes must be protected from sunlight. The albinos, people with albinism must constantly flee and protect from the sun.

Albinism - Who to consult?

        A dermatologist and an ophthalmologist, who must work together to avoid complications.

Albinism Prevention

        It is advisable to effectively protect against solar radiation, using a cream with high SPF and wearing tinted glasses. Patients should be aware of the susceptibility of occurrence of skin cancer.