Albinism

What Is Albinism?
Albinism is an inherited condition in which eyes, hair and/or skin have less than normal amounts of pigment. Some children and adults with albinism (albinos) can have a total lack of pigment with white skin and hair and pink-colored eyes. Others have only mildly decreased amounts of pigmentation. One form, Ocular Albinism, affects only the eyes, leaving the skin and hair pigmentation nearly normal. In severe cases of albinism the eye's central vision area, the macula, does not develop properly, resulting in poor vision.

What Causes Albinism?
Albinism results from the inability of the normal pigment cells in the eyes, hair or skin to produce normal amounts of pigment. This condition is passed on genetically from parents to children.

What Are The Symptoms Of Albinism?
The symptoms of albinism begin in early childhood and may include decreased vision, sensitivity to bright lights, an unintentional jittery movement of the eyes (nystagmus) and misalignment of the eyes (strabismus). Vision can range from normal, for those minimally affected, to legal blindness 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.

How Is Albinism Diagnosed?
Albinism is often suspected from a person's general appearance or through a family history of the disorder. A complete medical eye examination by an ophthalmologist, a general physical examination and a genetic evaluation (an investigation of the family history) can help diagnose and define the type of albinism.

Special tests of the hair shafts, skin or blood can be used to make a specific diagnosis. In two rare forms of albinism, affected individuals can have bleeding problems or increased susceptibility to infections, especially during childhood. Early diagnosis is important for proper treatment of these complications.

How Is Albinism Treated?
Albinism is a lifelong condition. Although there is no way to treat poor or absent pigment production or correct early poor development of central vision, proper eye evaluation and management can be useful.

Eye misalignment can be treated with optical or surgical measures and glasses can be prescribed to improve vision and reduce light sensitivity. Magnifying glasses for reading and low vision aids for distance vision can also be helpful.

Genetic counseling of affected individuals and their families is recommended. Counselors will provide the patient and family members with a detailed explanation of the disorder including the chances of future children being affected.

Some individuals with albinism may be entitled to help from visual assistance programs. Your ophthalmologist can make this determination and refer you to the appropriate agency.

Since albinos have to deal with both social and visual adjustments in daily life, it is often helpful to talk with others who have similar problems. The National Organization for Albinism and Hypopigmentation (NOAH) is a nonprofit organization formed for the benefit of families and individuals with these conditions. For information, write NOAH, 919 Walnut Street, Philadelphia, Pennsylvania 19107.

References: American Academy of Ophthalmology