Overview of Oculocutaneous Albinism

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Albinism

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Oculocutaneous albinism (OCA) is the most common type of albinism. It is a group of rare genetic disorders characterized by a lack of pigment in the eyes (oculo) and skin (cutaneous). Affecting about one in 20,000 people worldwide, the condition is caused by mutations in specific genes that are necessary for the production of melanin pigment.

Lack of sufficient melanin pigment production results in abnormal development of the eyes and light skin. These abnormalities could cause significant vision problems as well as skin that is susceptible to damage from the sun. Generally, those who have the least amount of pigment have the poorest vision. In some people, only the eyes are affected, and this is referred to as ocular albinism.

Symptoms

Many vision and skin problems are common with OCA. Symptoms may vary among individuals, depending on the type of mutation and the amounts of melanin present in the body. Signs and symptoms of OCA may include the following:

  • pale white, yellow, or unusually light skin and hair color
  • patchiness on the skin
  • sun sensitivity of the skin
  • pale blue, red, or purple eye color
  • decreased vision and/or visual clarity
  • blurred vision
  • poor depth perception
  • light sensitivity of eyes
  • nystagmus
  • head movements such as bobbing or tilting
  • astigmatism
  • strabismus
  • improper development of the macula

When your baby is born, the doctor may notice a lack of pigment in the hair or skin that affects the eyelashes and eyebrows. In this case, 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, alert your pediatrician.

Causes

Skin and eye color are determined by a pigment called melanin. Melanin is produced in specialized cells called melanocytes.

In OCA, a gene mutation occurs, causing melanocyte cells to produce little to no melanin in the skin, hair, and eyes.

OCA is an inherited, autosomal recessive genetic condition. A recessive genetic disorder occurs when a baby inherits an abnormal gene for the same trait from both parents. If only one gene for the disease is inherited, the baby will be a carrier for the disease, but will not usually have symptoms.

OCA consists of seven unique types, labeled from OCA1 to OCA7, caused by inherited mutations in seven different genes. Of the seven forms, OCA1 and OCA2 are the most common. The amount of pigment an affected person has varies by type, and the resulting color of skin, hair, and eyes also varies by and within types.

Diagnosis

OCA can be diagnosed by conducting a series of tests and exams including the following:

  • physical examination
  • assessment of symptoms
  • visual examination of pigmentation in hair, skin, and eyes
  • preliminary diagnosis of the likely mutation and form of OCA
  • family medical history
  • eye examination for structural abnormalities
  • complete vision examination
  • visual-evoked potential (VEP) testing in children with visual problems
  • prenatal genetic testing, if a family history of albinism is suggested

Since other conditions may have similar signs and symptoms, your doctor may request additional testing before making a diagnosis. Hermansky-Pudlak syndrome sometimes mimics the symptoms of OCA. It is a rare, hereditary disorder that consists of three characteristics: reduced pigment in skin, hair, and eyes, blood platelet dysfunction leading to prolonged bleeding, and abnormal storage of a fatty-like substance in various tissues of the body.

Contact your doctor if your child with albinism has frequent nosebleeds, bruises easily, or has chronic infections.

Ocular albinism is a disorder that affects the pigment cells of the eyes. Affected individuals (mostly males) have vision problems, and hair and skin color may be lighter than that of other their family members.

Treatment

At this time, no cure for OCA exists, but there are a number of measures that can be taken to improve visual function and to protect the skin from sun damage. Treatment for OCA focuses on protecting the skin from the sun and correcting eye and vision abnormalities.

Treatment may involve a team approach including a primary care doctor and doctors specializing in eye care (ophthalmologists), skin care (dermatologists), and genetics. The following treatment methods are recommended.

Skin Protection

The use of sunscreens with a high SPF is key. Avoidance of direct sun at midday as well as an annual skin assessment to screen for skin cancer or lesions that can lead to cancer are also important steps.

Eye Abnormalities

Make sure to get an annual eye exam by an ophthalmologist. Prescription corrective lenses to improve low or poor vision may be required as well.

Tinted glasses/lenses to reduce light-sensitivity are recommended, as is the use of UV-protected sunglasses. Many people also wear wide-brimmed hats for sunny days. In addition, some consider surgical correction of eye defects.

Coping

Coping with a genetic disorder such as albinism is not easy. OCA presents many challenges, both physical and mental. Professional help from a therapist or counselor can be valuable to patients and families facing the emotional issues of albinism.

Parents can work with teachers to help a child with albinism. Optimal classroom seating, lighting, and optical aids should be considered in the classroom, as these things can make learning easier and more comfortable.

Peer support groups are also available to help children and adults dealing with albinism.

These support groups can help make individuals feel less isolated. They can also help teach positive attitudes and coping skills.

The National Organization for Albinism and Hypopigmentation (NOAH) is a prominent support group in the United States. NOAH organizes conferences, teleconferences, webinar series, family summer camps, and adult weekend excursions. The group also offers scholarships to students with albinism. Another helpful support group in the United States is the Vision for Tomorrow Foundation. The Vision for Tomorrow mission is to empower people with low vision to have the confidence and ability to achieve their dreams.

Finally, the Albinism Fellowship is a voluntary organization that aims to provide information, advice, and support for people with albinism, parents, families, teachers, physicians, ophthalmologists, and other people with a personal connection to or an interest in the condition.

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Article Sources
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  • Kristin E. Noack Watt, Paul A. Trainor. "Oculocutaneous Albinism." Neural Crest Cells, 2014.


  • Porter, Daniel. What Is Albinism? American Academy of Ophthalmology (AAO), 13 April 2018.