Albinism is a rare genetic disorder where you 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 word albino comes from the Latin word “albus,” which means white. People with albinism are sometimes called albinos. Albinism affects the sexes evenly, and all ethnic groups are susceptible. Albinism isn’t a disease. Albinism is a genetic condition that people are born with. It’s not contagious, and it can’t be spread.
• Oculocutaneous albinism (OCA) is the most common and most serious kind. It can make your hair, eyes, and skin look noticeably different. There are eight subtypes of OCA, depending on the genes involved (OCA1A, OCA1B, OCA2, OCA3, OCA4, OCA5, OCA6, and OCA7).
• Ocular albinism (OA) affects only your eyes.
Albinism also can be linked to a few rare conditions caused by a problem with your genes:
• Hermansky-Pudlak syndrome. This is a rare form of albinism that also causes easy bruising and bleeding.
• Chediak-Higashi syndrome. Another rare form of albinism, this can cause a low red blood cell count (anemia) and an enlarged liver and can make you more likely to get infections.
• Griscelli syndrome type 2. Also called partial albinism and immunodeficiency syndrome, this is a rare condition that’s caused by a faulty gene. Symptoms include light skin, silver hair, and serious problems with your immune system that can eventually damage organs and tissues.
The main symptoms of albinism affect the vision and the color of the skin, hair, and eyes.
The most obvious sign of albinism is a lighter skin tone, although this is not always the case. In some people, levels of melanin slowly increase over time, darkening the skin tone as the person ages.
An individual’s skin may burn easily in the sun, and it does not usually tan. After sun exposure, some people with albinism might develop:
• moles, which are usually pink in color due to the reduced quantities of pigment
• lentigines, which are large freckle-like spots
There is also a higher risk of skin cancer. People with albinism should use sunscreen with an SPF of at least 20 and report any new moles or other skin changes to a doctor.
In people with albinism, hair color can range from white to brown. Those of African or Asian descent tend to have yellow, brown, or reddish hair.
As the individual ages, their hair color may slowly darken.
▪︎ Eye color
Eye color may also change with age and can vary from very light blue to brown. Low levels of melanin in the iris mean that the eyes can appear slightly translucent and, in a certain light, look red or pink as the light reflects off the retina at the back of the eye.
The lack of pigment prevents the iris from fully blocking sunlight, so the person is sensitive to light. It is known as photosensitivity.
All types of albinism affect the vision to a certain degree. Possible changes to eye function includes –
• Nystagmus: involuntary eye movements or “shaking”.
• Abnormal Head Position: the child develops a preferred head position to reduce the involuntary eye movements (nystagmus) and optimize vision.
• Strabismus: misalignment of the eyes.
• Photophobia: sensitivity to bright light and glare.
• Refractive Errors: Far-sightedness (hyperopia), near-sightedness (myopia) and astigmatism are very common.
• Foveal hypoplasia: the central part of the retina (the inside part of the eye that perceives light) does not develop normally before birth and during infancy. Without normal development of the central retina, vision is decreased
• Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the usual nerve routes.
• The iris (the colored area in the center of the eye) has little to no pigment to screen out stray light coming into the eye. This is known as iris transillumination.
• Vision can range from normal for those minimally affected, to legal blindness (vision less than 20/200) or worse for those with more severe forms of albinism. Near vision is often better than distance vision. Generally, those who have the least amount of pigment have the poorest vision.
Albinism is an inherited disorder that’s present at birth. Children have a chance of being born with albinism if both of their parents have albinism or both of their parents carry the gene for albinism.
The cause of albinism is a defect in one of several genes that produce or distribute melanin, the pigment that gives skin, eyes, and hair their coloring. The defect may result in the absence of melanin production or a reduced amount of melanin production.
For most types of albinism, both parents must carry the gene in order for their child to develop the condition. Most people with albinism have parents who are only carriers of the gene and don’t have symptoms of the condition.
Other types of albinism, including one that only affects the eyes, mostly occur when a birthing parent passes the gene for albinism on to a child assigned male at birth.
The most common physical problems associated with albinism are sunburn and skin cancers.
Visual deficits can also limit an individual’s work opportunities and their ability to obtain a driver’s license. Additionally, a person may have reading difficulties that lead to educational delays.
People may face significant social issues, such as social discrimination and stigma at school or in the workplace because they look different. These social factors can lead to stress, low self-esteem, and isolation.
Albinism is often obvious in newborns. A genetic test can confirm it. Your doctor probably will compare your baby’s skin and hair to those of family members.
An eye doctor, or ophthalmologist, may run a test called an electroretinography to check for vision problems linked to albinism.
Albinism is a lifelong genetic condition with no cure. Therefore, treatment focuses on minimizing the symptoms and watching for skin changes.
People with albinism must receive appropriate eye care, including –
• prescription glasses
• dark glasses to protect the eyes from the sun
• regular eye exams
Surgery on the optical muscles can sometimes minimize the “shaking” that occurs in nystagmus. Procedures to minimize strabismus can make it less noticeable, but surgery does not improve the vision. The level of success in reducing symptoms varies among individuals.
People should watch their skin carefully for any changes and use sunscreen for protection.
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