In this group of inherited disorders, there is little or no production of melanin, a pigment that determines hair, skin and eye color and vision development.
The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) — a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems.
Signs of albinism are usually apparent in a person's skin, hair and eye color, but sometimes differences are slight. People with albinism are also sensitive to the effects of the sun, so they're at increased risk of developing skin cancer.
Although there's no cure for albinism, people with the disorder can take steps to protect their skin and eyes and maximize their vision.
Signs and symptoms of albinism involve skin, hair, and eye color and vision.
The most recognizable form of albinism results in white hair and very light-colored skin compared with siblings. Skin coloring (pigmentation) and hair color can range from white to brown, and may be nearly the same as that of parents or siblings without albinism.
With exposure to the sun, some people may develop:
For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in pigmentation.
Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that's yellow, reddish or brown. Hair color may also darken by early adulthood or stain from exposure to normal minerals in water and the environment, and appear darker with age.
Eyelashes and eyebrows are often pale. Eye color can range from very light blue to brown and may change with age.
The lack of pigment in the colored part of the eyes (irises) makes the irises somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this, very light-colored eyes may appear red in some lighting.
Vision impairment is a key feature of all types of albinism. Eye problems and issues may include:
At your child's birth, if the doctor notices a lack of pigment in hair or skin that affects the eyelashes and eyebrows, the doctor will likely order an eye exam and closely follow any changes in your child's pigmentation and vision.
If you observe signs of albinism in your baby, talk to your doctor.
Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections. These signs and symptoms may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which are rare but serious disorders that include albinism.
Several genes provide instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin, hair and eyes.
Albinism is caused by a mutation in one of these genes. Different types of albinism can occur, based mainly on which gene mutation caused the disorder. The mutation may result in no melanin at all or a significantly reduced amount of melanin.
Types of albinism are classified based on how they're inherited and on the gene that is affected.
Albinism can include skin and eye complications as well as social and emotional challenges.
Problems with vision can impact learning, employment and the ability to drive.
People with albinism have skin that is very sensitive to light and sun exposure. Sunburn is one of the most serious complications associated with albinism because it can increase the risk of developing skin cancer and sun damage-related thickening of the skin.
Some people with albinism may experience discrimination. The reactions of other people to those with albinism can often have a negative impact on people with the condition.
People with albinism may experience bullying, teasing or probing questions about their appearance, eyewear or visual aid devices. They usually look very different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders. These experiences may contribute to social isolation, poor self-esteem and stress.
Using the term "person with albinism" is preferred to avoid the stigma of other terms.
If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. He or she can also explain the available tests.
Diagnosis of albinism is based on:
A medical doctor specializing in vision and eye disorders (ophthalmologist) should conduct your child's eye exam. The exam includes an assessment of potential nystagmus, strabismus and photophobia. The doctor also uses a device to visually inspect the retina and determine if there are signs of abnormal development.
Genetic consultation can help determine the type of albinism and the inheritance.
Because albinism is a genetic disorder, it can't be cured. Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities. Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist) and genetics.
Treatment generally includes:
People with Hermansky-Pudlak or Chediak-Higashi syndromes usually require regular specialized care to address medical needs and prevent complications.
You can help your child learn self-care practices that should continue into adulthood:
If your child has albinism, begin early to work with teachers and school administrators to take measures to help your child adapt to classroom learning. If necessary, start with educating the school professionals about albinism and how it affects your child. Also ask about services that the school or workplace offers to assess and meet needs.
Adjustments to the classroom or work environment that may help include:
Help your child develop skills to deal with other people's reactions to albinism. For example:
August 20th, 2021