What Is Albinism?
Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems.
OA(ocular albinism) is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. This type of albinism only affects the eyes. People with OA have normal hair, skin, and eye coloring, but have no coloring in the retina (the back of the eye).
What Causes Albinism?
A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and causes albinism.
Who Is at Risk for Albinism?
Albinism is an inherited disorder that’s present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.
What Are the Symptoms of Albinism?
People with albinism will have the following symptoms:
- an absence of color in the hair, skin, or eyes
- lighter than normal coloring of the hair, skin, or eyes
- patches of skin that have an absence of color
Albinism occurs with vision problems, which may include:
- strabismus (crossed eyes)
- photophobia (sensitivity to light)
- nystagmus (involuntary rapid eye movements)
- impaired vision or blindness
How Is Albinism Diagnosed?
The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor or an electroretinogram test. This test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.
What Are the Treatments for Albinism?
There is no cure for albinism. Treatment for albinism can relieve symptoms and prevent sun damage. Treatment may include:
- sunglasses to protect the eyes from UV rays
- protective clothing and sunscreen to protect the skin from UV rays
- prescription eyeglasses to correct vision problems
- surgery on the muscles of the eyes to correct abnormal eye movements
Post a comment