Health A-Z

Medical Content Created by the Faculty of the
Harvard Medical School

Retinitis Pigmentosa

What Is It?

Retinitis pigmentosa is a disorder in which the cells in the eye that sense light break down (degenerate), leading to a slow loss of vision and sometimes blindness. The light-sensitive cells, called rods and cones, are in the retina, the back portion of the eye that sends visual information to the brain.

Approximately 100,000 people in the United States have retinitis pigmentosa, making it one of the leading causes of blindness. In people who have the disease, the first signs usually can be detected by about age 10, and the first symptoms usually show up in adolescence. The total amount of vision loss and how quickly the disease worsens vary from person to person.

No one knows exactly what causes retinitis pigmentosa. It is believed to be an inherited disorder, and research suggests that several different types of gene mutations (changes in genes) can cause this disease. In most cases, the disorder is linked to a recessive gene, a gene that must be inherited from both parents in order to cause the disease. But dominant genes and genes on the X chromosome also have been linked to retinitis pigmentosa. In these cases, only one parent has passed the disease gene. In some cases, a new mutation causes the disease to occur in a person who does not have a family history of the disease. The disorder also can show up as part of other syndromes, such as Bassen-Kornzweig disease or Kearns-Sayre syndrome.