Types and Symptoms of Albinism

Albinism is a group of inherited disorders characterized by a lack of melanin, a type of pigment found in the skin, eyes, and hair. This rare condition not only affects humans, but also animals with a backbone (vertebrates).

People with the condition typically have light skin and hair and are highly sensitive to sun exposure. Aside from possible problems with vision, those with albinism are otherwise healthy. There is no cure for albinism, and treatment is typically centered on caring for the eyes and skin.

This article covers the different types and symptoms of albinism, as well as ways to manage the condition.

What Is Albinism?

Albinism originates from the Latin word albus, meaning white. It refers to a rare genetic condition that disrupts the production of melanin—the pigment that gives skin, hair, and eyes their color.

In the Western world, around one in 17,000 to 20,000 people is affected by albinism, otherwise known as congenital hypopigmentary disorders. There are many types albinism, none of which affect life expectancy.

Albinism is obvious at birth. Persons with the condition typically present with light skin, hair, and eyes. Due to a lack of melanin, their skin is very sensitive to light and sun. Problems with eyesight are also not uncommon.

Types of Albinism

There are many different types of albinism, but the term typically refers to two: oculocutaneous albinism (OCA) and ocular albinism. There are seven types of OCA which are referred to as OCA types 1–7.

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 people with OCA type 1 or type 2.
• OCA type 4 presents with physical features similar to those of OCA type 2. It is associated with a mutation in the SLC45A2 gene.
• OCA type 5 has only been identified in one family in Pakistan. It is associated with a mutation in chromosome 4. Affected persons have golden-colored hair, very light skin, and eye problems similar to those associated with OCA type 1.
• OCA type 6 is caused by a mutation in the SLC24A5 gene. Persons with this rare type of albinism have very light skin and hair color that ranges from golden to dark brown. Vision problems are less severe than those associated with OCA type 1.
• OCA type 7 is a rare form of albinism that is associated with mutations in chromosome 10. Affected persons have hair color that ranges from blond to dark brown, hypopigmented skin, as well as nystagmus and reduced visual acuity.
• 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.

Symptoms of Albinism

Hair Color

Hair color 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 are usually 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. Issues may include:

• Nystagmus, a rapid, involuntary back-and-forth movement of the eyes
• Strabismus, in which the eyes aren't aligned or able to move together
• Extreme nearsightedness or farsightedness
• Photophobia, a 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
• Optic nerve problem–where nerve signals from the retina to the brain don't follow the usual nerve pathways
• Poor depth perception
• Legal blindness (vision less than 20/200) or complete blindness
• Monocular vision, relying on vision in one eye only

Causes of Albinism

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, melanin determines if someone is a blonde or a redhead, has blue eyes or hazel, and so on.

Albinism can occur alone or as a symptom of separate disorders.

Diagnosing Albinism

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.

The disorder could be detected with genetic testing, but this is rarely necessary or routinely done. However, genetic testing may be done to determine the specific type of albinism a person has, as well as the risk of passing down the gene to offspring.

Treating 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 regarding eye or vision problems will depend on their individual symptoms. 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 more.

Skin can burn easily, increasing the risk of skin damage and even skin cancer. Therefore, it's vital that people with albinism protect their skin and eyes by:

• Staying out of the sun
• Using a broad-spectrum sunscreen
• Wearing protective clothing (including hats) when outside
• Wearing sunglasses
• Monitoring their skin for cancer

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 to prepare for this challenge. A good source of information and support about living with albinism can be found on the National Organization for Albinism and Hypopigmentation website.

Summary

Albinism is an inherited disorder characterized by a reduced amount of melanin, a pigment that gives color to the skin, hair, and eyes. The condition is generally considered benign, though some people may experience problems with vision. There is no cure for albinism, and treatment mainly focuses on taking care of the eyes and skin.