Albinism is a group of inherited diseases in which melanin deficiency occurs. Melanin levels determine the color of the skin, hair, and eyes. Melanin is also involved in developing the optic nerves, which is why people with albinism encounter serious vision issues. Unfortunately, in some cases, the nurses are not qualified enough to pinpoint the type of albinism. This can lead to negative consequences such as inappropriate treatment. The purpose of this paper is to discuss the different types of albinism, diagnostic methods, and treatments.
The cause of albinism is a mutation at the genetic level. The most typical mutation occurs in the tyrosinase enzyme (tyrosine-3-monooxygenase), which synthesizes melanin from the amino acid tyrosine (Chowdhury et al., 2019). Depending on the mutation, melanin production can either slow down or stop completely. The types of albinism are distinguished based on which gene is mutating. These include oculocutaneous albinism, ocular albinism (found only in men), Hermanski-Pudlak syndrome, and Chédiak-Higashi syndrome. Each type of albinism requires a particular approach to treatment, so it is necessary to identify it already at the stage of diagnosis correctly.
The first sign of albinism is altered hair and skin color. People with albinism often have white or blonde hair, although some may have dark blonde or red hair. Pale skin that burns quickly but does not darken in the sun is also characteristic of albinism. In some cases, only the color of the eyes is affected. With albinism, people may have light blue, gray, or brown eyes. Eye color depends on the type of albinism and the amount of melanin (Jorde et al.,, 2019). People from ethnic groups with darker pigmentation have darker eye color. Vision problems are another critical symptom. A decrease in melanin levels can also cause the following vision problems: poor vision – either myopia or farsightedness; astigmatism; photophobia; nystagmus (Estes et al., 2019). In addition, strabismus may develop in patients with albinism.
Diagnosis of albinism is based on examining the patient for signs of lack of pigment and comparing the patient’s skin color to their relatives. After that, a more detailed study should be carried out. This includes a fundus examination by an ophthalmologist, a hair bulb incubation test (tyrosinase analysis of the bulb), and a skin and hair follicle biopsy. It is also often necessary to consult a geneticist to determine the type of disease.
Pigmentation changes can also cause other diseases, but there will be no vision problems. That is, the presence of pigment changes and visual disturbances allows the doctor to diagnose albinism. Since albinism is a genetic disorder, a complete cure is not possible. Treatment is based on minimizing symptoms and observing changes. The main treatment methods are an annual examination by an ophthalmologist and wearing corrective lenses (Barnhill et al., 2019). In some cases, eye muscle surgery may be required to minimize the symptoms of nystagmus or correct strabismus. Skincare and skin cancer prevention play an essential role, such as being screened annually for skin cancer or identifying abnormalities that are likely to result in cancer. In addition, people with Hermansky-Pudlak or Chédiak-Higashi syndrome usually need constant monitoring to provide timely care and prevent complications.
The general recommendations of doctors for people with albinism are pretty general. These people should use at least an SPF 30 sunscreen to minimize the effects of the sunbeams. For the same reason, these people should avoid prolonged sun exposure, wear closed clothing (such as long-sleeved shirts, long pants, and socks), hats (preferably wide-brimmed hats), and sunglasses. Thanks to this, patients will keep their skin in good condition and not be exposed to additional negative environmental influences.
References
Barnhill, R., Crowson, N., Magro, C., & Piepkorn, M. (2019). Dermatopathology, 4th ed. McGraw-Hill Education.
Chowdhury, M., Katugampola, R., & Finlay, A. (2019). Dermatology at a glance. Wiley.
Estes, M., Calleja, P., Theobald, K., & Harvey, T. (2019). Health assessment and physical examination. Cengage Learning Australia.
Jorde, L. B., Carey, J. C., & Bamshad, M. J. (2019). Medical Genetics E-book. Elsevier Health Sciences.