Types and Symptoms of Albinism

Albinism is a group of inherited disorders characterized by a lack of pigment in a person's skin, eyes, and hair. People with an albinism, otherwise known as congenital hypopigmentary disorders, have very pale complexions and are highly sensitive to sun exposure; they also tend to have eye problems. There are many types of albinism, none of which affect life expectancy. The symptoms of albinism usually can be handled easily. These disorders are very rare and tend to affect men and women equally.

Albinism is obvious at birth. If you have a new baby with a congenital hypopigmentary disorder, your child should be healthy in every way, but you'll likely need to take special precautions to protect his skin and eyes from the sun. You'll also benefit from preparing yourself and, with time, him for the potential of others voicing curiosity about his physical characteristics.

Types and Signs

There are many different types of albinism, but the term typically refers to two: oculocutaneous albinism (OCA) and ocular albinism. There are three types of OCA which are referred to as OCA type 1, OCA type 2, and OCA type 3.

Each type of albinism results from a mutation of a specific gene on a specific chromosome that causes a dysfunction of cells called melanocytes. These cells produce the melanin, or pigment, that imparts color to skin, hair, and eyes. In other words, it's melanin that determines if someone is a blonde or a redhead, has blue eyes or hazel ones, and so on.

Albinism can occur alone or as a symptom of separate disorders, such as Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Waardenburg syndrome.

All types of albinism cause some lack of pigment, but the amount varies:

• OCA type 1 usually involves a complete absence of pigment in the skin, hair, and eyes, although some people may have a small degree of pigmentation. OCA type 1 also causes photophobia (sensitivity to light), reduced visual acuity, and nystagmus (involuntary eye twitching).
• OCA type 2 is characterized by minimal to moderate pigmentation in the skin, hair, and eyes, as well as eye problems similar to those associated with OCA type 1.
• OCA type 3 is sometimes difficult to identify based on appearance alone. It's most noticeable when a very light-skinned child is born to dark-skinned parents. People with OCA type 3 usually have vision problems, but these tend to be less severe than in folks with OCA type 1 or type 2.
• Ocular albinism affects only the eyes, causing minimal pigmentation in them. The iris may appear translucent. Reduced visual acuity, nystagmus, and difficulty controlling eye movements may occur.

Diagnosis

The disorder could be detected with genetic testing, but this is rarely necessary or routinely done. The distinctive physical characteristics and symptoms of albinism are usually enough to diagnose the condition. Note that there can be a great deal of variation among people with albinism in regards to how the condition affects the following.

Hair Color

It can range from very white to brown and, in some cases, be nearly the same as that of a person's parents or siblings. People with albinism who are of African or Asian descent may have yellow, reddish, or brown hair. Sometimes a person's hair will become darker as they get older or due to exposure to minerals in water and the environment. Eyelashes and eyebrows usually are very pale.

Skin Color

The complexion of a person with albinism may or may not be noticeably different from that of his or her immediate family members. Some individuals will develop freckles, moles (including pinkish ones that lack pigment), and large freckle-like spots called lentigines. They usually aren't able to tan, but do sunburn easily.

Eye Color

This can range from very light blue to brown, and it may change with age. However, the lack of pigment in the irises prevents them from completely blocking light from entering the eye, so a person with albinism may appear to have red eyes in some lighting.

Vision

The most problematic characteristic of albinism is the effect it has on vision. According to the Mayo Clinic, issues may include:

• Nystagmus—rapid, involuntary back-and-forth movement of the eyes
• Bobbing or tilting the head in response to involuntary eye movements and to see better
• Strabismus, in which the eyes aren't aligned or able to move together
• Extreme nearsightedness or farsightedness
• Photophobia (sensitivity to light)
• Astigmatism—blurred vision caused by abnormal curvature of the front surface of the eye
• Abnormal development of the retina, resulting in reduced vision
• Nerve signals from the retina to the brain that don't follow the usual nerve pathways
• Poor depth perception
• Legal blindness (vision less than 20/200) or complete blindness

Living With Albinism

There is no treatment or cure for albinism, but the skin sensitivity and vision problems do require attention throughout life.

Any treatment a person with albinism may need in regards to eye or vision problems will depend on his or her individual symptoms, of course. Some people may need to wear corrective lenses and nothing more; others whose vision is severely impaired may need low vision support, such as large-print or high-contrast reading materials, large computer screens, and so forth.

Skin can burn easily, increasing the risk of skin damage and even skin cancer. It's vital that people with albinism use a broad-spectrum sunscreen and wear protective clothing when outside to prevent ultraviolet-induced damage to the skin. Regular skin checks for cancer are very important. Wearing sunglasses is also imperative.

Perhaps the most significant issues a person with albinism may have to deal with pertains to misperceptions about the disorder. Kids, in particular, may get questions, stares, or, unfortunately, even experience bullying or prejudice from their peers.

Parents may want to work with a counselor or therapist while their child with albinism is still young in order to prepare for this challenge. A good source of information and support about living with albinism can be found on the website for the National Organization for Albinism and Hypopigmentation.