You or a relative have a retinal degenerative disease like retinitis pigmentosa (RP) or macular degeneration. Understandably you are concerned about the severity of the disease and the possible loss of sight. In addition the ophthalmologist has said that is an inherited disease and that there is a risk that other family members may be affected. Now is the time to consult with an ophthalmologist trained in genetics with medical geneticist or with a genetic counselor. Only after a thorough review of your family history can the risk for other family members be assessed.
The information found in this web page cannot replace genetic counseling; Genetic counseling is provided only by trained professionals in a medical setting. Rather, you can use this web page to help prepare for the counseling session and you can refer to it after counseling to help you remember what was discussed.
Retinitis pigmentosa (RP) is the name given to a group of retinal degenerative disease characterized by a breakdown of the retina the thin layers of light-sensing cells in the back of the eye (Figure 1). The first symptom of RP is usually night blindness follow by reduction in peripheral vision which leads to tunnel vision.
Macular degeneration describes a group of retinal degenerative diseases that is characterized by a breakdown of the macuIa, the small center portion of the retina. The macula provides the sharp central vision needed for reading small print and for recognizing faces at a distance. Symptoms of macular degeneration may include seeing dark or empty areas in the center of vision, and seeing distortions of lines and shapes in every day actvities.
Other retinal degenerative diseases affect specific layers of the retina and may also involve other parts of the body. Retinal degenerative diseases are also referred to as retinal degenerations.
Although usually diagnosed in young adulthood, certain forms of retinal degenerations are evident in early childhood, and other forms may not appear until the fifth or sixth decade of life.
Because most retinal degenerations are inherited, they can occur in more than one individual in a family. In some families, the disease affects both parent and child. In other families, unaffected parents have one or more children with a retinal degeneration.
To understand how retinal degenerations are inherited, it is important to first review the basic facts about genetics, the science of heredity.
Date last modified January 23, 2000