What is Albinism?

Albinism is a rare condition. It is a genetic disorder which is characterized by the inadequate production of the pigment melanin. The disorder may be inherited from the parents. The condition is not life threatening, but those suffering from albinism may have to limit their outdoor activities as they cannot tolerate being in the sun for long.

Melanin is the chemical that gives the skin, hair and the iris of the eye their color. Those suffering from albinism will have extremely pale skin, hair and eyes. They may also have some patches of skin or hair that have a darker shade than other parts. Some serious complications that may crop up include problems with the vision, and a higher risk of developing skin cancer.

Albino young man portrait. Image Credit: Sondem / Shuttertock

Types of Albinism

There are primarily two basic types of albinism. These are oculocutaneous albinism and ocular albinism.  Oculocutaneous albinism or OCA affects the pigment in the eyes, hair and skin. Those suffering from this condition will have white or pink hair, extremely pale skin and pale iris color. They usually suffer from eyesight problems because the photoreceptor cells are unable to process the light waves and send conflicting messages to the brain.

Ocular albinism or OA, is not as obvious as the skin and hair do not have such extreme lack of pigmentation. However, the primary problem here lies with the eye sight. An examination of the eye will show lack of pigmentation in the iris and retina . This is the rarer form of albinism and is caused by a mutation in an X chromosome. Its inheritance therefore follows an X-linked pattern. It is not as obvious at birth as OCA.

Symptoms of Albinism

The most obvious symptoms are the pale color of the hair and the skin. The lack of melanin reduces the skin’s ability to protect itself from UV rays. This results in increased vulnerability to skin damage by solar exposure. However, a number of symptoms of albinism can be related to associated eye problems. The list below includes some possible symptoms related to vision in a person with albinism.
 

Strabismus: There is a misalignment of the eyes leading to a squint. Also known as being cross-eyed, it happens when one eye looks straight at an object while the other turns inwards, outwards, upwards or downwards. Both eyes do not move in a synchronized manner. This hampers optimal eye functioning.

Nystagmus: A condition where the patient’s eyes move rapidly and uncontrollably. Often a preferred head position is developed to optimize vision and deal with the involuntary eye motion. This leads to strained muscles in the neck.

Photophobia: A high degree of sensitivity to bright light from sources such as the sun, fluorescent bulbs or incandescent lighting. Because of the intense discomfort, the patient feels the need to squint or close the eyes for relief.

Refractive Errors: Hyperopia or far sightedness, myopia or near sightedness and astigmatism or defect in the curvature of the cornea are the common types of refractive errors.

Monocular Vision: A dependence on only one eye for vision, with the other eye not being used to send messages to the brain. This may thus become a lazy eye.

Foveal Hypoplasia: Improper development of the retina during birth or childhood leading to poor vision.

Faulty Optic Nerve: The nerve signals that must travel from the retina to the brain fail to develop properly and therefore do not transmit information as required.

Transillumination Issues with Iris: The colored diaphragm between the anterior chamber of the eye and the lens is known as the iris. When it is lacking in the pigment melanin, it is unable to screen out the extra light entering the eye. This causes vision issues.

Treatment Options for Albinism

The production of melanin cannot be regulated artificially. For this reason, there is no cure for the subnormal synthesis of melanin which causes albinism. The skin may be protected from sun exposure to reduce the chances of sunburn as well as of skin cancer. Using sun screen of SPF 30 or more, good-quality sunglasses, long-sleeved garments and wide-brimmed hats are a good start to protect the patient.

There is no cure for the eye problems caused by albinism. However, treatment options such as corrective glasses and contact lenses may help in some cases to improve the vision. Using correct lighting can help reduce the strain on the eye sight within the home. Children in school will need additional help to see distant objects in the classroom. Training and counseling may be required to equip teachers who handle children with albinism.

Albinism does not worsen with age. It has no impact on the intelligence of a person. Genetic counseling of patients suffering from albinism helps them understand the disorder. It also helps deal with the possibility of future generations being affected with the condition. Having a support group makes it easier to deal with the challenges of albinism. Keeping a positive mental attitude and developing social skills to cope with the stigma attached to the condition help the patient immensely.