Albinism includes a group of inherited disorders that are characterized by little or no production of the pigment melanin. The type and amount of melanin your body produces determine the color of your skin, hair, and eyes. Most people with albinism are sensitive to sun exposure and are 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 maximize their vision. Some people with albinism may feel socially isolated or experience discrimination.
Signs of albinism are usually, but not always, apparent in a person's skin, hair and eye color. However, all people with the disorder experience vision problems.
Although the most recognizable form of albinism results in white hair and pinkish skin, skin coloring (pigmentation) can range from white to brown, and may be nearly the same as that of parents or siblings without albinism.
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. With exposure to the sun, some people may develop:
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.
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 them 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. This occurs because you're seeing light reflected off the back of the eye and passing back out through the iris again — similar to the red-eye that occurs in a flash photo.
Signs and symptoms of albinism related to eye function include:
Rapid, involuntary back-and-forth movement of the eyes (nystagmus)
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 your eye or the lens inside your eye (astigmatism), which causes blurred vision
NB: When to see a doctor
If your child lacks pigment in his or her hair or skin at birth that affects the eyelashes and eyebrows — as is often the case in infants with albinism — your doctor will likely order an eye exam and closely follow any changes in your child's pigmentation.
Albinism is caused by a mutation in one of several genes. Each of these genes provides 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 and eyes. A mutation may result in no melanin at all or a significant decline in the amount of melanin.
In some types of albinism, a person must inherit two copies of a mutated gene — one from each parent — in order to have albinism (recessive inheritance).
Impact on eye development
Regardless of which gene mutation is present, vision impairment is a key feature of all types of albinism. These impairments are caused by irregular development of the optic nerve pathways from the eye to the brain and from abnormal development of the retina.
Types of albinism
Types of albinism, based mainly on which mutated gene caused the disorder, include:
Oculocutaneous albinism. Oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism is caused by a mutation in one of four genes. People with oculocutaneous albinism (OCA) type 1 have milky white skin, white hair and blue eyes at birth. Some people with OCA type 1 never experience an increase in pigmentation, but others begin to produce melanin during early childhood. Their hair may become a golden blond, brown or red, and their irises may change color and lose some translucence.
Hermansky-Pudlak syndrome. Hermansky-Pudlak syndrome is a rare albinism disorder caused by a mutation in one of at least eight different genes. The disorder is much more common in Puerto Rico. People with this disorder have signs and symptoms similar to people with oculocutaneous albinism, but they may also develop lung and bowel diseases, or a bleeding disorder.
Chediak-Higashi syndrome. Chediak-Higashi syndrome is a rare form of albinism associated with a mutation in the LYST gene. With signs and symptoms similar to oculocutaneous albinism, the hair is usually brown or blond with a silvery sheen, and the skin is usually creamy white to grayish. People with this syndrome have a defect in white blood cells that increases their risk of infections.
Complications of albinism include skin disorders as well as social and emotional challenges.
One of the most serious complications associated with albinism is the risk of sunburn and skin cancer.
Social and emotional factors
The reactions of other people to those with albinism can often have a negative impact on people with the condition.
Children with albinism may experience name-calling, teasing or questions regarding their appearance, eyewear or visual aid devices.
Many people with albinism find the word "albino" hurtful because they're being labeled simply on the basis of looks rather than being thought of as individuals.
People with albinism usually look very different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders.
All of these factors may contribute to social isolation, poor self-esteem and stress.
TESTS AND DIAGNOSIS
A complete diagnostic workup for albinism includes a:
- Physical exam
- Description of changes in pigmentation
- A thorough exam of the eyes
- Comparison of your child's pigmentation to that of other family members
A medical doctor specializing in vision and eye disorders (ophthalmologist) should conduct your child's eye exam. The exam will include an assessment of potential nystagmus, strabismus and photophobia. The doctor will also use a device to visually inspect the retina and determine if there are signs of abnormal development. A simple test can measure the brain waves produced when light or a reversing pattern is flashed into each eye. This can indicate the presence of misrouted optical nerves.
If your child has only one eye impairment, such as nystagmus, another condition may be the cause. Disorders other than albinism can affect skin pigmentation, but these don't cause all of the visual problems associated with albinism.
TREATMENTS AND DRUGS
Because albinism is a genetic disorder, treatment is limited. But getting proper eye care and monitoring skin for signs of abnormalities are especially important to your child's health.
Your child will most likely need to wear prescription lenses, and he or she should receive annual eye exams by an ophthalmologist. Although surgery is rarely part of treatment for albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable, but it won't improve vision.
Your doctor should conduct an annual assessment of your child's skin to screen for skin cancer or lesions that can lead to cancer. Adults with albinism need annual eye and skin exams throughout their lives.
LIFESTYLE AND HOME REMEDIES
If a family member has albinism, a genetic counselor can help you understand your chances of having a future child with albinism. He or she can also explain the available tests and help you figure out the pros and cons of testing for your family member.
COPING AND SUPPORT
Coping with vision impairment
Many people with albinism develop coping skills to adjust to vision impairments. Tilting the head to one side may minimize the effect of nystagmus and improve vision. Holding a book very close can make it easier to read without causing any harm to the eyes.
Coping with educational challenges
Despite visual handicaps and abnormal optic nerve pathways, children with albinism are developmentally normal. If your child has albinism, begin early to work with teachers and school administrators to facilitate measures to help your child adapt. These may include sitting in the front of the class, using large-print books or a tablet computer for learning, avoiding bright light in the learning setting, or allowing more time for taking tests.
If necessary, start with educating the school professionals about what albinism is and how it affects your child. Also ask about services the school can provide to assess your child's needs.
So albinism is never a curse but a genetic disorder!
Accept a brother,a sister who is an albino. He is just like you.
Dr. Kingsley Prekoh (SCHOOL OF MEDICAL SCIENCES - UCC)
WRITTEN BY: Elijah Appau Shiamang ( Level 200 Physician Assistant Studies student of the University of Cape Coast).
Disclaimer: "The views/contents expressed in this article are the sole responsibility of the author(s) and do not neccessarily reflect those of Modern Ghana. Modern Ghana will not be responsible or liable for any inaccurate or incorrect statements contained in this article."