What is Retinitis Pigmentosa (RP)?
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The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind.
The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.
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Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe.
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The genes associated with retinitis pigmentosa play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. These cells transmit visual signals from the eye to the brain. The retina contains two types of photoreceptors, rods and cones. Rods are responsible for vision in low light, while cones provide vision in bright light, including color vision.
Mutations in any of the genes responsible for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with retinitis pigmentosa. Rods typically break down before cones, which is why night vision impairment is usually the first sign of the disorder. Daytime vision is disrupted later, as both rods and cones are lost.
See a list of genes associated with retinitis pigmentosa.
Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder.
This condition can also be inherited in an X-linked pattern. The genes associated with X-linked retinitis pigmentosa are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, (who have two X chromosomes), mutations usually have to occur in both copes of the gene to cause the disorder. However, at least 20 percent of females who carry only one mutated copy of the gene develop retinal degeneration and associated vision loss. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In 10 to 40 percent of all cases of retinitis pigmentosa, only one person in a family is affected. In these families, the disorder is described as simplex. It can be difficult to determine the inheritance pattern of simplex cases because affected individuals may have no affected relatives or may be unaware of other family members with the disease. Simplex cases can also result from a new gene mutation that is not present in other family members.
These resources address the diagnosis or management of retinitis pigmentosa and may include treatment providers.
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To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
You may find the following resources about retinitis pigmentosa helpful. These materials are written for the general public.
· MedlinePlus - Health information (2 links)
· Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (2 links)
· Additional NIH Resources - National Institutes of Health (2 links)
· Educational resources - Information pages (7 links)
· Patient support - For patients and families (7 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
· Gene Reviews - Clinical summary
· Genetic Testing Registry - Repository of genetic test information (1 link)
· ClinicalTrials.gov - Linking patients to medical research
· PubMed - Recent literature
· OMIM - Genetic disorder catalog
- cone-rod retinal dystrophy
- pigmentary retinopathy
- rod-cone dystrophy
- tapetoretinal degeneration
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
ataxia ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; chromosome ; cones ; gene ;inheritance ; inheritance pattern ; inherited ; mutation ; neuropathy ; new gene mutation ;pattern of inheritance ; peripheral ; receptor ; recessive ; retina ; rods ; sex chromosomes ; sign ;syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
The above information is from the National Institutes for Health. Learn more on their website at http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa.
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