What Is Albinism?
Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems. According to the National Organization for Albinism and Hypopigmentation, about 1 in 18,000 to 20,000 people in the United States has a form of albinism.
What Are the Types of Albinism?
Different gene defects characterize the numerous types of albinism. Types of albinism include:
Oculocutaneous Albinism (OCA)
OCA affects the skin, hair, and eyes. There are several subtypes of OCA:
OCA1 is due to a defect in the tyrosinase enzyme. There are two subtypes of OCA1.
OCA1a: People with OCA1a have a complete absence of melanin, the pigment that gives skin, eyes, and hair their coloring. People with this subtype have white hair, very pale skin, and light eyes.
OCA1b: People with OCA1b produce some melanin. They have light-colored skin, hair, and eyes. Their coloring may increase as they age.
OCA2 is less severe than OCA1. It’s due to a defect in the OCA2 gene that results in reduced melanin production. People with OCA2 are born with light coloring and skin, and their hair may be yellow, blond, or light brown. OCA2 is most common in Sub-Saharan Africans, African Americans, and Native Americans.
OCA3 is a defect in the TYRP1 gene. It usually affects dark-skinned people, particularly black South Africans. People with OCA3 have reddish-brown skin, reddish hair, and hazel or brown eyes.
OCA4 is due to a defect in the SLC45A2 protein. It results in a minimal production of melanin and commonly appears in people of East Asian descent. People with OCA4 have symptoms similar to those in people with OCA2.
Ocular Albinism (OA)
OA is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. This type of albinism only affects the eyes. People with OA have normal hair, skin, and eye coloring, but have no coloring in the retina (the back of the eye).
Hermansky-Pudlak Syndrome (HPS)
HPS is a rare form of albinism that is due to a defect in one of eight genes. It produces symptoms similar to OCA, and occurs with lung, bowel, and bleeding disorders.
Chediak-Higashi syndrome is another rare form of albinism that is the result of a defect in the LYST gene. It produces symptoms similar to OCA, but may not affect all areas of the skin. Hair is usually brown or blond with a silvery sheen, and the skin is usually creamy white to grayish. People with Chediak-Higashi syndrome have a defect in the white blood cells, increasing their risk of infections.
Griscelli Syndrome (GS)
GS is an extremely rare genetic disorder. It’s due to a defect in one of three genes. There only have been 60 known cases of GS worldwide since 1978. GS occurs with albinism (but may not affect the entire body), immune problems, and neurological problems. GS usually results in death within the first decade of life.
What Causes Albinism?
A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and causes albinism.
Who Is at Risk for Albinism?
Albinism is an inherited disorder that’s present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.
What Are the Symptoms of Albinism?
People with albinism will have the following symptoms:
an absence of color in the hair, skin, or eyes
lighter than normal coloring of the hair, skin, or eyes
patches of skin that have an absence of color
Albinism occurs with vision problems, which may include:
strabismus (crossed eyes)
photophobia (sensitivity to light)
nystagmus (involuntary rapid eye movements)
impaired vision or blindness
How IsAlbinism Diagnosed?
The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor or an electroretinogram test. This test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.
What Are the Treatments for Albinism?
There is no cure for albinism. Treatment for albinism can relieve symptoms and prevent sun damage. Treatment may include:
sunglasses to protect the eyes from UV rays
protective clothing and sunscreen to protect the skin from UV rays
prescription eyeglasses to correct vision problems
surgery on the muscles of the eyes to correct abnormal eye movements
What Is The Long-Term Outlook?
Most forms of albinism don’t affect lifespan. Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome do affect lifespan because of the health problems associated with the syndromes.
People with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun. Ultraviolet rays from the sun can cause skin cancer and vision loss in some people with albinism.