Vision Problems
People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use braille. Some have vision good enough to drive a car.

Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye exam.

Types of Albinism
While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced Ock-you-low-kew-Tain-ee-us) albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

Over the years researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored, and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged, and vision often corrects to 20/60. Early descriptions of albinism called these main categories of albinism "complete" and "incomplete" albinism. Later researchers used a test that involved plucking a hair root, and seeing if it would make pigment in a test tube. This test separated "ty-neg" (no pigment) from "ty-pos" (some pigment). Further research showed that this test was inconsistent, and added little information to the clinical exam.

Recent research has used analysis of DNA, the chemical which encodes genetic information, to arrive at a more firm classification system for albinism. Type 1 albinism (also called tyrosinase-related albinism) is the type involving almost no pigmentation. Type 1 albinism results from a genetic defect in an enzyme called tyrosinase. This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a "building block" of protein, and comes from protein in the diet.) Type 2, a type with slight pigmentation, results from a defect in a different gene called the "P" gene.

Researchers have identified several other genes that cause forms of albinism. In one form of albinism, the Hermansky-Pudlak syndrome, there can be problems with bleeding, and with lung and bowel disease as well. Hermansky-Pudlak syndrome is a less common form of albinism, but should be suspected if a child with albinism shows unusual bruising or bleeding.