Retinitis pigmentosa (RP) refers to a group of inherited disorders that slowly leads to blindness due to abnormalities of the photoreceptors (primarily the rods) in the retina.
Description
The retina lines the interior surface of the back of the eye. The retina is made up of several layers. One layer contains two types of photoreceptor cells referred to as the rods and cones. The cones are responsible for sharp, central vision and color vision and are primarily located in a small area of the retina called the fovea. The area surrounding the fovea contains the rods, which are necessary for peripheral vision and night vision (scotopic vision). The number of rods increases in the periphery. The rod and cone photoreceptors convert light into electrical impulses and send the message to the brain via the optic nerve. Another layer of the retina, called the retinal pigmented epithelium (RPE), may also be affected.
In RP, the photoreceptors (primarily the rods) begin to deteriorate and lose their ability to function. Because the rods are primarily affected, it becomes harder to see in dim light, thus causing a loss of night vision. As the condition worsens, peripheral vision disappears, which results in tunnel vision. The ability to see color is eventually lost. In the late stages of the disease, there is only a small area of central vision remaining. Ultimately, this too is lost.
There are many forms of retinitis pigmentosa. Sometimes the disorder is classified by the age of onset or the inheritance pattern. RP can also accompany other conditions. This entry discusses "non-syndromic" RP, the type that is not associated with other organ or tissue dysfunction.
Genetic profile
Retinitis pigmentosa is an inherited disease that has many different modes of inheritance. RP, with any inheritance pattern, may be either familial (multiple family members affected) or isolated (only one affected person). In the non-sex-linked, or autosomal, form, it can either be a dominant or recessive trait. In the sex-linked form, called X-linked recessive, it is a recessive trait. This X-linked form is more severe than the autosomal forms. Two rare forms of RP are the digenic and mitochondrial forms.
Isolated RP cases represent 10–40% of all cases. Some of these cases may be the result of new gene mutations (changes in the genes). Other isolated cases are those in which the person has a relative with a mutation in the gene, but the relative is not affected by the condition.
Autosomal dominant RP (AdRP) occurs in about 15–25% of affected individuals. At least 12 different genes have been identified as causing AdRP. People with AdRP will usually have an affected parent. The risk for affected siblings or children is 50%.
Autosomal recessive RP (ArRP) occurs in about 5–20% of affected individuals. More than 16 genes have been identified that cause this type of RP. In ArRP, each parent of the affected person is a carrier of an abnormal gene that causes RP. Neither of these carrier parents is affected. There is a two-thirds chance that an unaffected sibling is a carrier of RP. All of the children of an affected person would be a carrier of the ArRP gene.
Five to 15% of individuals with RP have X-linked recessive RP (XLRP). Six different genes have been identified as the cause of this type of RP. Usually in this type of inheritance, males are affected carriers, while females are unaffected carriers or have a milder form of the disease. The mother may be a carrier of the mutation on the X-chromosome. It is also possible that a new mutation can occur for the first time in an affected person. For families with one affected male, there is a mathematical formula called the Baysean analysis that can be applied to the family history. It takes into account the number of unaffected males to determine whether a female is likely to be a carrier or not. If a mother is a carrier, her children have a 50% chance of inheriting the RP gene. For affected males, all of their daughters will be carriers but none of their sons will be affected.
The digenic form of RP occurs when the affected person has inherited one copy of an altered ROM1 gene from one parent and one copy of an altered peripherin/RDS gene from the other parent. The parents are asymptomatic. Mitochondrial inheritance occurs when the gene mutation is in a mitochondrial gene. People with this type of RP have progressive hearing loss and mild myopathy. Both of these types of RP are very rare.
Demographics
The prevalence of RP is approximately 1 out of every 4,000 people in the United States and Europe. For other parts of the world, there are no published data. Nor is there any known ethnic difference in the occurrence of RP.
Signs and symptoms
The first symptoms, a loss of night vision followed by a loss of peripheral vision, usually begin in early adolescence or young adulthood. Occasionally, the loss of the ability to see color occurs before the loss of peripheral vision. Another possible symptom is seeing twinkling lights or small flashes of lights.
Diagnosis
When a person complains of a loss of night vision, a doctor will examine the interior of the eye with an ophthalmoscope to determine if there are changes in the retina. For people with advanced RP, the condition is characterized by the presence of clumps of black pigment in the inner retina (intraretinal). However, the appearance of the retina is not enough for an RP diagnosis since there are other disorders that may give the retina a similar appearance. There are also other reasons someone may have night blindness. Consequently, certain electrodiagnostic tests must be performed. An electroretinogram (ERG) determines the functional status of the photoreceptors by exposing the retina to light. The ERG uses a contact lens in the eye, and the output is measured on a special instrument called an oscilloscope. The functional assessments of visual fields, visual acuity, or color vision may also be performed.
The diagnosis of RP can be established when the following criteria are met:
rod dysfunction measured by dark adaptation test or ERG
progressive loss in photoreceptor function
loss of peripheral (side) vision
both eyes affected (bilaterality)
Molecular genetic testing is available on a research basis. Prenatal diagnosis for this condition has not yet been achieved.
Treatment and management
There are no medications or surgery to treat RP. Some doctors believe vitamins A and E will slightly slow the progression of the disease in some people. However, large doses of certain vitamins may be toxic and affected individuals should speak to their doctors before taking supplements.
If a person with RP must be exposed to bright sunlight, some doctors recommend wearing dark sunglasses to reduce the effect on the retina. Affected people should talk to their eye doctors about the correct lenses to wear outdoors.
Because there is no cure for RP, the affected person should be monitored for visual function and counseled about low-vision aids (for example, field-expansion devices). Genetic counseling is also appropriate. A three-generation family history with attention to other relatives with possible RP can help to clarify the inheritance pattern. For some people however, the inheritance pattern cannot be discerned.
Prognosis
There is no known cure for RP, which will eventually lead to blindness. The more severe forms will lead to blindness sooner than milder forms.
BOOKS
Newell, Frank W. Ophthalmology: Principles and Concepts. 7th ed. St. Louis, MO: Mosby Year Book, 1992.
ORGANIZATIONS
American Academy of Ophthalmology. PO Box 7424, San Francisco, CA 94120-7424. (415) 561-8500. <http://www.eyenet.org>.
American Association of the Deaf-Blind. 814 Thayer Ave., Suite 302, Silver Spring, MD 20910. (301) 588-6545.
American Optometric Association. 243 North Lindbergh Blvd., St. Louis, MO 63141. (314) 991-4100. <http://www.aoanet.org>.
Foundation Fighting Blindness Executive Plaza 1, Suite 800, 11350 McCormick Rd., Hunt Valley, MD 21031. (888) 394-3937. <http://www.blindness.org>.
National Retinitis Pigmentosa Foundation. 11350 McCormick Rd., Executive Plaza 1, Suite 800, Hung Valley, MD 21031-1014. (800) 683-5555. <http://www.blindness.org>.
