A Nurse's Guide to Albinism

Albinism is a type of genetic disorder that results in a lack of coloring in the hair, skin and eyes. Although many people may imagine a typical appearance of a person with albinism, various conditions exist that may affect only certain areas of the body. In addition to causing skin changes, albinism can create problems with vision; including rapid eye movements and potential blindness. Although there is no cure for albinism, treatment is aimed at reducing symptoms associated with this condition.


The body normally produces melanin, a substance that naturally adds color to the skin, hair and iris of the eyes. A person with albinism is born with a genetic defect that impacts the body’s production of melanin. A severe form of albinism, known as oculocutaneous albinism, results in white skin and hair and may create a pink color to the eyes. People with oculocutaneous albinism may suffer from vision problems as the condition also affects the retina in the back of the eye. It also places those with the condition at greater risk of melanoma, an aggressive form of skin cancer.


Another form of albinism is known as ocular albinism, where the eyes lack color in the irises, but skin and hair color remain largely unaffected. Ocular albinism can still cause vision problems, including rapid eye movements, decreased vision or crossed eyes, known as strabismus. A disorder similar to albinism, known as Hermansky-Pudlak syndrome (HPS), causes vision problems and low pigmentation. A person with this disorder also has problems with blood clotting, putting him or her at increased risk of excessive bleeding.


Albinism and HPS are types of genetic disorders in that the trait runs in families, and the gene type affects the development of ocular or oculocutaneous albinism. HPS is caused by a single gene as an autosomal recessive disorder, meaning both parents must carry the trait for HPS to manifest in a child. Many diagnoses of albinism are done by appearance; if a physician suspects the condition based on low pigmentation, further testing for vision problems is warranted. An electroretinogram is an eye test that determines the function of the retina. Eye problems, such as nystagmus, which involves rapid eye movements; strabismus, which occurs when the eyes cross; and extreme sensitivity to light, known as photophobia, are all other conditions that can indicate vision disturbances. A doctor may also order genetic testing to determine if the person carries the specific albinism trait.


Treatment of albinism is aimed at helping vision problems and protecting the skin to avoid further complications. Because the person with albinism may have reduced melanin in the skin, he or she has a greater potential for overexposure to sun and burning. Use of sunscreen with a high SPF is necessary, as well as sunglasses and hats to protect the eyes. Frequent checks of the skin for moles and skin changes are preventive in the development of melanoma. Vision problems, including nystagmus or low vision can be helped with glasses.


Albinism may be a difficult diagnosis to accept, as the outward manifestations are often readily apparent. In addition to skin and vision changes, the person with albinism may struggle with social acceptance because of a difference in appearance. Often, the use of the word “albino” is directed at a person with albinism, and some people accept this term while others find it derogatory. The hurtful words and stereotypes of others can be isolating for the person with albinism. Support groups may become a valuable resource as a place to meet and connect with others with the condition. Finding support through family and friends can provide encouragement to cope with unrealistic stereotypes and insensitivity that sometimes accompanies this condition.


For more information about the symptoms, diagnosis and management of albinism, refer to the following links.