- By sahlhealth
- May 18, 2021
- 92 views
The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) â€” 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:
Moles, with or without pigment â€” 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 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:
- 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.
Diagnosis of albinism is based on:
- A physical exam that includes checking skin and hair pigmentation
- A thorough eye exam
- Comparison of your child's pigmentation to that of other family members
- Review of your child's medical history, including whether there has been bleeding that doesn't stop, excessive bruising or unexpected infections
- 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:
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.