Albinism Diagnosis

Albinism is a condition caused by the inheritance of genes coding for inadequate production of the pigment melanin in the body. The lack of melanin affects the color of the hair and the skin as well as the iris of the eye. There are several other associated problems that may be seen in a person afflicted with albinism.

Unidentified albino mother and son. Image Credit: By Dietmar Temps / Shutterstock

How is Albinism Diagnosed?

The diagnosis is often made at birth as the skin and hair color of the baby will be much lighter or paler than the rest of the family. The presence of light patches on the skin is a clue to the presence of albinism. A full diagnosis will include a physical examination of the baby, including comparison of the pigmentation of the child with that of the parents and other members of the family.

As a number of vision-related problems are often associated with albinism, the doctor may need to do a detailed eye examination. The ophthalmologist will assess the baby for nystagmus, strabismus and photophobia. Electrodiagnostic testing in which small electrodes are placed on the scalp to test the connection of the brain and eyes is also sometimes conducted.

What are the Different Types of Albinism?

The two main types of albinism are oculocutaneous and ocular albinism. In oculocutaneous albinism the condition is immediately recognizable due to the dilution of the pigment and its effect on the color of the hair, skin and eyes. This is the most common form of the condition. In ocular albinism the hair and skin may be nearly normal in appearance but the eyes are affected. This is the case in 10 to 15 % of albinism patients.

Based on the specific gene that causes the albinism, there are many different classifications of oculocutaneous albinism, such as:

OCA 1A – Completely absent tyrosinase activity. Patient has blue-grey eyes and reduced vision. Hair is white at birth and tends to become yellow as the child ages. The skin is white. Even the moles on the skin have no pigmentation or color.

OCA 1B – Reduced tyrosinase activity is seen. The degree of dilution of skin and hair pigment is variable in affected individuals. There is no typical eye or hair color associated with this subtype of albinism. The patients tend to be very sensitive to temperature changes.

OCA 2 – This was previously known as the P gene mutation. There is variable dilution of the melanin in the hair and skin of patients. Excessive solar exposure to sun leads to solar lentigines, also called liver spots. These are flat tan, brown or black spots found on the sun-exposed skin parts.

OCA 3TYRP 1 mutation – These individuals have reduced synthesis of eumelanin. The hair is generally seen to be red or brown.

OCA 4SLC45A2 mutation – This was earlier known as MAPT. Its symptoms are similar to those of OCA 2. It is most commonly found in India, China and Japan.

In more rare types of albinism, we can include Hermansky-Pudlak syndrome, Cross syndrome, Chediak-Higashi syndrome and Griscelli syndrome. They all have a recessively inherited genetic mutation which causes the albinism. However, since the gene that has the error is different in each of these types, the symptoms also tend to differ from case to case.

Treating Albinism

Prevention is the only sure cure when it comes to albinism. The parents must be offered genetic counselling if they are found to be carriers of the albinism gene. If both have the same genetic mutation, the child will be born with albinism. However, if only one parent is a carrier, there is a good chance that the child may have compensatory genes and produce the normal amount of melanin pigmentation.

Explaining how the condition may be inherited is a good start for counseling the parents. Being part of a support group also helps deal with the baby’s condition. It allows the family to keep their outlook positive and feel less isolated when they see other families coping with the same problem. Counseling also keeps the child positive about the condition and teaches the child coping mechanisms to lead as normal a life as possible with albinism.

Protecting the skin is a priority for albinos. The lack of melanin leaves them exposed to ultraviolet rays without any inherent protection. Using a strong sunscreen with SPF 30 or higher potency is an essential investment in skin health. The use of protective long-sleeved clothing when out in the sun is also a must, along with a wide-brimmed hat that covers the head and protects the face. Albinism creates a greater risk for sunburn and skin cancer, so adequate attention must be given to protection.

Vision conditions may vary depending on the type of albinism the patient is suffering from. Depending on the severity and actual vision problem, solutions will be recommended to the patient. Impaired vision may be corrected with contact lenses or glasses. Other optical aids such as magnifying glasses and bold print books may be used to help improve the vision of the patient.