About albinism

What is albinism?

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.

What are the symptoms for albinism?

Signs and symptoms of albinism involve skin, hair, and eye color and vision.

Skin

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:

  • Freckles
  • Moles, with or without pigment — Moles without pigment are generally pink-colored
  • Large freckle-like spots (lentigines)
  • Sunburn and the inability to tan

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

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.

Eye color

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

Vision impairment is a key feature of all types of albinism. Eye problems and issues may include:

  • Rapid, involuntary back-and-forth movement of the eyes (nystagmus)
  • Head movements, such as bobbing or tilting the head, to try to reduce the involuntary eye movements and see better
  • Inability of both eyes to stay directed at the same point or to move in unison (strabismus)
  • Extreme nearsightedness or farsightedness
  • Sensitivity to light (photophobia)
  • Abnormal curvature of the front surface of the eye or the lens inside the eye (astigmatism), which causes blurred vision
  • 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 (misrouting of the optic nerve)
  • Poor depth perception
  • Legal blindness (vision less than 20/200) or complete blindness

When to see a doctor

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.

What are the causes for 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

Types of albinism are classified based on how they're inherited and on the gene that is affected.

  • Oculocutaneous albinism (OCA), the most common type, means a person inherited two copies of a mutated gene — one from each parent (autosomal recessive inheritance). It's the result of a mutation in one of seven genes, labeled from OCA1 to OCA7. OCA causes decreased pigment in the skin, hair and eyes, as well as vision problems. The amount of pigment varies by type, and the resulting color of skin, hair and eyes also varies by and within types.
  • Ocular albinism is mainly limited to the eyes, causing vision problems. The most common form is type 1, inherited by a gene mutation on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one mutated X gene to her son (X-linked recessive inheritance). Ocular albinism occurs almost exclusively in males and is much less common than OCA.
  • Albinism related to rare hereditary syndromes can occur. For example, Hermansky-Pudlak syndrome includes a form of OCA as well as bleeding and bruising problems and lung and bowel diseases. Chediak-Higashi syndrome includes a form of OCA as well as immune problems with recurrent infections, neurologic abnormalities and other serious issues.

What are the treatments for albinism?

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:

  • Eye care. This includes receiving an annual eye exam by an ophthalmologist and most likely wearing prescription corrective lenses. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable.
  • Skin care and prevention of skin cancer. This includes receiving an annual skin assessment to screen for skin cancer or lesions that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink skin lesions.

People with Hermansky-Pudlak or Chediak-Higashi syndromes usually require regular specialized care to address medical needs and prevent complications.

What are the risk factors for albinism?

Albinism is a rare genetic condition caused by mutations of certain genes that affect the amount of melanin your body produces. Melanin controls the pigmentation (color) of your skin, eyes, and hair.

  • People with albinism have extremely pale skin, eyes, and hair. They are at an increased risk of vision, skin, and social issues; the patients aren't born with the usual amount of melanin pigment.
  • Melanin is a chemical in your body that determines the color of your skin, hair, and eyes.
  • Most people with albinism have very pale skin, hair, and eyes.
  • They are prone to sunburn and skin cancer. Melanin also is involved in optical nerve development, so you may have vision problems


The risk of this problem is higher in:

  • Children of parents who have albinism
  • Children of parents who do not have albinism, but carry the faulty genes that cause it
  • People who have other family members with albinism
  • Patients with underlying medical conditions like diabetes and hypertension also make the disease much more severe in terms of the eye perspective.
  • Usually, this disease is an autosomal recessive condition, so it can be transmitted to children only if both parents have the disease. However, sometimes it can be transmitted even if one parent has this condition.


Symptoms
Very pale skin, hair and eyes,Patches of missing skin pigment,Crossed eyes (strabismus),Rapid eye movements (nystagmus),Vision problems,Light sensitivity (photophobia)
Conditions
A rare genetic disorder where a person isn't born with the usual amount of melanin pigment
Drugs
Low-vision aids,Nitisinone

Is there a cure/medications for albinism?

Albinism is a group of rare, inherited disorders that affect the amount of a pigment called melanin. People with it have little to no pigment in their eyes, skin, and hair.

  • Since albinism is a lifelong genetic condition, it cannot be cured.
  • Treatment focuses on minimizing the symptoms, getting proper eye care, and watching for skin changes or monitoring skin for signs of abnormalities.
  • People with albinism must receive appropriate eye care, such as prescription glasses, dark glasses to protect the eyes from the sun, and regular eye exams, and use sunscreen for protection.
  • Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist), and genetics.
  • Eyecare includes receiving an annual eye exam by an ophthalmologist and most likely wearing prescription corrective lenses. However, surgery is rarely part of the treatment for eye problems related to albinism.
  • Surgery to correct strabismus may make the condition less noticeable.
  • Skin care and prevention of skin cancer include receiving an annual skin assessment to screen for skin cancer or lesions that can lead to cancer.
  • An aggressive form of skin cancer called melanoma can appear as pink skin lesions.
  • Surgery on the optical muscles can sometimes minimize the "shaking" that occurs in nystagmus.
  • People with Hermansky-Pudlak or Chediak-Higashi syndromes usually require regular specialized care to address medical needs and prevent complications.


Symptoms
Very pale skin, hair and eyes,Patches of missing skin pigment,Crossed eyes (strabismus),Rapid eye movements (nystagmus),Vision problems,Light sensitivity (photophobia)
Conditions
A rare genetic disorder where a person isn't born with the usual amount of melanin pigment
Drugs
Low-vision aids,Nitisinone

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