Types and Symptoms of Albinism

Portrait of albino man

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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 disorder have very pale complexions and are highly sensitive to sun exposure; they also tend to have eye problems.

There are many types of albinism, which more formally are known as congenital hypopigmentary disorders. These disorders are very rare and tend to affect men and women equally. They don't affect life expectancy and the symptoms of albinism usually can be handled easily.

Albinism is obvious at birth. If you have a new baby with a congenital hypopigmentary disorder, here's what you should know about the condition. 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 and to prepare him for being noticed by others for his physical characteristics.

Types

There are many different types of albinism but the term typically refers to oculocutaneous albinism (OCA) and, often, ocular albinism. There are three types of OCA which are referred to as OCA type 1, OCA type 2, and OCA type 3. (Albinism sometimes occurs as a symptom of separate disorders, such as Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Waardenburg syndrome.)

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.

All types of albinism cause some lack of pigment, but the amount varies among the different types.

  • 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

Albinism is present at birth. 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 of African or Asian descent with albinism 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 and so in some lighting, a person with albinism may appear to have red eyes.

Vision. The most problematic characteristic of albinism is the effect it has on vision. According to the Mayo Clinic, these 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 doesn'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. For instance, 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 is very important. Wearing sunglass also is imperative.

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.

Perhaps the most significant issues a person with albinism may have to deal with pertaining to misperceptions about the disorder. Kids, in particular, may experience bullying or prejudice from their peers, and so 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.

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