Albinism: Causes, Symptoms, Diagnosis, and Treatment

Albinism is a skin disorder in which there is a disturbance in the production of the pigment melanin because of the absence or defect in the enzyme tyrosinase. Melanin in the body is required to give a natural color to the skin and hair and iris of the eye, hence when this is affected it results in decreased color to the skin and hair, and iris. Also, melanin protects from the harmful effects of ultraviolet rays and absorbs heat from the sun. It is a congenital disorder that presents at birth. It is also called hypopigmentation or achromasia.

Albinism is a hereditary condition that runs in the family. It presents as oculocutaneous albinism affecting the eyes, skin, and hair or as ocular albinism affecting only the eyes. It affects all age groups and both men and women are affected equally.

Albinism can cause problems with vision, and social issues because the appearance is different from normal people, making individuals more susceptible to sunburn and skin cancer. There is no treatment for the condition but precautionary measures should be taken to protect the skin from harmful ultraviolet rays.

Albinism: Causes

The important causes of albinism include −

• Complete absence or defect in the tyrosinase kinase enzyme which is required for the production of the pigment melanin. This mainly happens because of genetic mutation. There are various types of albinism depending on the type of gene mutation caused.

• It is a hereditary condition transmitted from one generation to the other generation. It is mainly transmitted as autosomal recessive in which the condition is seen in an alternate generation not all the generation members are affected. In some families, it is transmitted as X-linked recessive inheritance also in which only males are affected and females are the carriers

Albinism: Symptoms

The symptoms of albinism depend on the type of albinism present. There are mainly 2 types. One is oculocutaneous and the other is ocular type. Oculocutaneous presents with a change in skin, hair, and eye color whereas ocular albinism presents with only changes in eyes.

The main symptoms include the following −

• Pale or patchy skin

• Hypo-pigmented areas all over the body

• White hair

• Eyes pale blue or light brown

• Reduced vision and also the depth of perception is been affected

• Intolerance of the bright light

• Alternate and periodic eye movements (nystagmus)

• Deviation of the eyes (strabismus)

• Increased risk for skin cancer

Albinism: Risk Factors

Albinism is a hereditary condition and hence runs in families. A family history of albinism is an important risk factor. It is inherited as autosomal recessive, in this; the person should have a mutation of both the genes inherited from parents.

If one gene is mutated, the person becomes a carrier who does not present with any symptoms. No other risk factors are found to increase the condition.

Albinism: Diagnosis

The diagnosis of albinism is based on the clinical examination and some of the tests which include −

• The diagnosis of albinism is based on the physical appearance only after birth. Careful examination of the skin, eyes, and hair should be done

• During pregnancy, genetic tests can be done to diagnose the condition. Chorionic villous sampling and amniocentesis done during the 2^nd trimester of pregnancy can diagnose albinism

• Hair from the scalp can be done to assess the tyrosinase activity by determining the DOPA and melanin concentration

• Radioactive biochemical assay − This test is done to assess the DOPA and melanin

Albinism: Treatment

There is no cure for albinism as it is a genetic disease. The main aim of the treatment is to reduce the symptoms and to protect the skin and eyes from the sun. Some of the important measures include −

• The skin should be protected by using sunscreen creams, and protective complete coverings to protect the exposure to ultraviolet rays.

• Screening for skin cancer or lesions should be done every year

• Most people need glasses

• Sunglasses or dark glasses should be used to prevent intolerance to the bright light

• If there is the presence of nystagmus or strabismus it should be treated accordingly. In these cases, surgery can be considered based on the requirement.

Albinism: Prevention

There are no preventive measures to reduce the occurrence of albinism as it is a genetic disease, but genetic counseling can help the person and their families to know about the risk of their child having albinism. Some of the precautionary measures can help to reduce the symptoms. These measures include −

• Sunscreen lotions should be used to avoid sunburn and exposure to the ultraviolet rays

• Sunglasses or dark glasses should be done to reduce intolerance to light.

• Long exposure to the sun should be avoided and protective clothing should be done

• Yearly examination of the skin and the eyes

• Regular follow-ups

Conclusion

Albinism is a condition that affects skin pigmentation because of the defect or absence of the pigment melanin because of the defective or absence of the tyrosinase kinase enzyme. It is a hereditary condition that runs in families. The patient presents with decreased color or pale skin, white hair, and ocular features like reduced vision, intolerance to light, and so on.

The diagnosis of albinism is done based on clinical presentation. Some of the genetic tests such as amniocentesis and chorionic villous sampling can be done to diagnose the condition during the 2^nd trimester.

There are no risk factors or preventive measures present as it is a genetic condition. There is no cure for the disease but symptoms can be reduced by using sunscreen lotions, and extra clothing to avoid sun exposure so that the harmful effects of ultraviolet rays can be reduced. Sunglasses help the individual to reduce intolerance to bright light. Annual checkups and regular follow-ups are advised to prevent complications.