Therapy of albinism | Albinism

Therapy of albinism

A therapy of the present genetic defect is not possible until today, so albinism can only be treated symptomatically and one can try to avoid consequential damages of the disease. It is important for persons with albinism to pay attention to special UV protection, as the natural protection is missing due to the lack of pigmentation. Those affected should therefore avoid direct exposure to sunlight as much as possible and otherwise always ensure very good protection with textiles and sun creams. In addition, many patients find it useful to protect their eyes with tinted contact lenses or glasses and, if necessary, to use visual aids. Although there is no cure for the disease, patients can lead a largely normal life.

Inheritance

Albinism is a collective term for various genetic defects that lead to a lack of pigment. Since there is almost always a residual activity of the affected genes, those affected look very different. Common to most people with albinism is a matt white, very light-sensitive skin.

Furthermore, the iris of the affected person appears red and the hairs of the head are very light, almost yellow. The genetic defects are usually inherited after an autosomal recessive inheritance. This means that affected persons must have two defective alleles on their chromosomes to develop albinism.

The carrying of both defective alleles is called homozygous. Alleles have to be imagined as expression forms of a gene. So if you get two times the defective expression of a certain gene, an albinism develops.

Since the genes on the chromosomes are obtained from both the mother and the father, healthy parents can have a child with albinism. If the father and mother each have one defective allele and pass it on to the child, which thus receives two defective alleles, the child develops albinism. There are more than five known genes in humans whose alteration can lead to albinism.

The term pigment disorder covers many diseases that lead to a changed skin appearance due to the disturbed formation of the skin’s colour pigments. Here you will find the topic: Pigment disorderThe pigment melanin is responsible for the colouring of the skin. A disturbance of the melanin production can lead to an increased or decreased pigmentation of the skin.

Here you will get to the topic: Pigment disorder SkinPigment disorders often depend on a disturbed melanin production. Various treatment options can be used to counteract the pigment discoloration. Here you will get to the topic: Pigment disorder therapy