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Description
Retinitis pigmentosa is a group of eye disorders that are characterized by vision loss that worsens over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye
. In people with retinitis pigmentosa, vision loss occurs as the specialized light receptor cells (photoreceptors) of the retina gradually deteriorate. The vision loss typically affects both eyes (bilateral), but the age at which symptoms appear and the course of the disease can vary among affected individuals.
The first sign of retinitis pigmentosa is usually a loss of night vision, which may occur in childhood or adolescence. Problems with night vision can make it difficult to move around in low light. Later, the disease causes blind spots to develop at the edges of the visual field (peripheral vision). Over time, these blind spots increase in size until they merge to produce tunnel vision. Eventually, vision in the center of the visual field is impaired. This affects detailed tasks such as reading, driving, and recognizing faces. Most people with retinitis pigmentosa become legally blind in adulthood.
When retinitis pigmentosa occurs on its own, without signs and symptoms in other parts of the body, it is called nonsyndromic retinitis pigmentosa. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of genetic inheritance.
In 20 to 30 percent of cases, retinitis pigmentosa occurs as part of a syndrome that affects other organs and tissues in the body. These forms of retinitis pigmentosa are called syndromic retinitis pigmentosa. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by retinitis pigmentosa combined with hearing loss that begins early in life.
Frequency
Retinitis pigmentosa is the most common inherited disease of the retina (retinopathy). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe.
Causes
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in more than 130 genes are known to cause retinitis pigmentosa. Variants in the RHO, USH2A, and RPGR genes are among the most common causes of retinitis pigmentosa.
Many of the genes that are associated with retinitis pigmentosa play essential roles in the structure, function, or maintenance of the photoreceptors. 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.
The pathogenic variants that are responsible for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The increase in cell death 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 and color vision are disrupted later, as both rods and cones are lost.
When retinitis pigmentosa occurs as part of a syndrome, it is caused by variants in the gene that are associated with that syndrome.
A genetic cause is found in 50 to 80 percent of people with retinitis pigmentosa. A genetic cause is more likely to be found in affected individuals who have a family history of retinitis pigmentosa. Some people with retinitis pigmentosa do not have an identified variant in any of the genes known to be associated with this condition. The cause of the condition in these individuals is unknown.
Inheritance
Retinitis pigmentosa can have different inheritance patterns depending on the specific gene involved.
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. Pathogenic variants in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa.
Retinitis pigmentosa can also have an autosomal recessive pattern
of inheritance, which means both copies of a gene in each cell must have a pathogenic variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Pathogenic variants in the USH2A gene are the most common cause of autosomal recessive retinitis pigmentosa.
Less commonly, retinitis pigmentosa can 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 typically sufficient to cause the condition. This is not always true for females (who have two X chromosomes). However, at least 20 percent of females who carry only one altered copy of a gene associated with X-linked retinitis pigmentosa develop retinal degeneration and the associated vision loss. Variants in the RPGR gene are the most common cause of X-linked retinitis pigmentosa.
Rarely, retinitis pigmentosa is inherited in a digenic pattern, which means that a variant must be present in two different genes to cause the disorder.
In 40 to 50 percent of all cases of nonsyndromic retinitis pigmentosa, only one person in a family is affected. In these individuals, 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. Although simplex cases can be caused by a new (de novo) gene variant that is not present in other family members, they are typically the result of autosomal recessive inheritance.
When retinitis pigmentosa occurs as part of a syndrome, it follows the inheritance pattern of that syndrome.
Other Names for This Condition
- Hereditary retinal dystrophy
- RP
- Tapetoretinal degeneration
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
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