Albinism - diagnose and tests

It is not always easy to diagnose the exact type of albinism which affects a person. Recently it was discovered a blood test that can identify carriers of the gene that cause some types of albinism. A similar test can be performed along with amniocentesis to diagnose some types of albinism which affect a fetus.
Samples taken in the 5th week of pregnancy may also help diagnose albinism.

In order to diagnose albinism, firstly a physical examination is needed. After the skin color and the hair color are determined, an ocular examination follows. The ocular look-up may include fundus examination and slit-lamp evaluation in order to track down illnesses like: strabismus, refractive error, fovea hypoplasia, nystagmus, a blue-gray or light brown eyes colour and iris transillumination. An electroretinogram may be used also. This tests shows the brain waves that are produced when the eyes are exposed to light and may give informations about optical nerves that are not on the right course.

If a patient is suspected to suffer from albinism, the phenotype must be estimated.

If there is a minimum presence of melanin, the possible diagnose is OCA 1B, OCA 2, or OCA 3. OCA 1A is likely to happen when the patient does not present pigment at all. If the baby presents white hair at birth, the only possible cause is OCA 1. To be sure that OCA1 is the correct diagnosis an evaluation of the hair bulb may be done .The hair bulb is taken from the scalp. If the result is positive and the patient also presents pigment in a little amount then the diagnosis may be OCA 2, OCA 1B, OCA 3.

To be clear which of this 3 condition is the diagnose, a further test of the genes where P- protein or tyrosinase are founded is needed. This test is rather difficult to take that’s why an alternative is a skin biopsy. A skin biopsy can also give information about the P-protein and the tyrosinase and about the TRP-1. If the hair of the patient is silver then CHS may be the cause.

Albinism is not a cause for mental problems or retardation. It’s almost impossible to set a good diagnose without an evaluation of the family history. A useful test for families where other members have also albinism is the genetic sequence analysis. In general people who suffer from albinism have a normal life and can have normal activities.

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