Retinitis Pigmentosa

Disease Overview

Retinitis pigmentosa (RP) is a large group of inherited vision disorders that cause progressive deterioration of the retina, the light sensitive membrane that coats the inside of the eyes.

Signs and symptoms of RP may include loss of night vision (night blindness), gradual loss of side (peripheral) vision (tunnel vision) where people are not able to see objects below and around themselves and loss of central vision, which make it hard to do detailed tasks such as reading or threading a needle. Peripheral (or side) vision gradually decreases and eventually is lost in most patients. Central vision is usually preserved until late in these conditions. There may also be problems with color vision.

Retinitis pigmentosa can be isolated (nonsyndromic or simple) or can be part of other conditions (syndromic) along with deafness, obesity, kidney disease and various other general health problems, including central nervous system and metabolic disorders and occasionally chromosomal abnormalities.

Isolated retinitis pigmentosa (RP) is caused by changes (variants) in many different genes, and these genes are involved in various aspects of how the eye processes light and maintains healthy photoreceptor cells. Photoreceptor cells are specialized cells in the retina that detect light and send signals to the brain, enabling vision. However, the role of many of the genes linked to RP is still not fully understood.

RP is a complicated condition due to several genetic factors such as locus heterogeneity, where different genes can cause the same type of RP, allelic heterogeneity, where many different variants can occur within the same gene, allelic disorders, where different variants in the same gene can cause different eye conditions and variability in severity, where the symptoms and severity of RP can vary, even among people who have the same genetic variant.

Inheritance can be autosomal dominant, autosomal recessive or X-linked. There are also rare digenic forms of RP, where variants in two different genes (ROM1 and PRPH2) need to be present for the condition to develop.

GeneReviews offers an updated report on RP including the Genes Associated with Nonsyndromic Autosomal Dominant Retinitis Pigmentosa (adRP) and Genes Associated with Nonsyndromic Autosomal Recessive Retinitis Pigmentosa (arRP)

The presence of pigment clumps or deposits in the retina, commonly observed during histopathological examination (microscopic analysis of the affected tissue) is what gives retinitis pigmentosa (RP) its name.

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Synonyms

• progressive pigmentary retinopathy
• rod-cone dystrophy
• RP

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Signs & Symptoms

Signs and symptoms of retinitis pigmentosa develop gradually over time and may include:

• Loss of night vision: RP usually begins as night or dim light visual impairment (that is, difficulty seeing in dimly lit environments or at dusk, or adapting to, or recovering function in, dim light after being in bright light for any length of time).
• Loss of peripheral vision: The loss of night vision is typically followed by the affected individual’s growing awareness of a loss of peripheral vision. Symptoms are more often noticed between the age of 10 and 40, but earlier and later onset forms of RP exist.

Some people with RP lose their vision more quickly than others. Eventually, most people with RP lose their peripheral vision and then their central vision.

Other symptoms of RP may include:

• Sensitivity to bright light
• Loss of color vision

The sudden onset of these same symptoms should point to a different cause, such as an autoimmune process. Older people with sudden onset of these symptoms are especially at risk for experiencing them as the result of having cancer (so called paraneoplastic retinopathy, which often co-occurs with optic nerve involvement as well).

The rate and extent of progression of visual loss in RP can vary. It has been reported that the most variable aspect is the age of onset of the symptoms. This can vary not only between families and between subtypes of RP, but also within families. Usually, after the first decade of having symptoms, affected people experience a slower rate of disease progression, which then accelerates during the next two decades, to slow again during the remainder of life. When other members of a family are affected, the rates of progression are often similar within that family, but there may be some degree of variability.

Some people affected with RP or related disorders present with complex manifestations affecting other organs, termed “syndromes”. The most common associations of RP with general health (so called “systemic”) problems causing these more complex syndromes are hearing loss and obesity and are reviewed under the “Related Syndromes” section of this review.

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Causes

Retinitis pigmentosa can be isolated (no syndromic or simple) or can be part of other conditions (syndromic) along with deafness, obesity, kidney disease and various other general health problems, including central nervous system and metabolic disorders and occasionally chromosomal abnormalities. Over 60 systemic disorders show some type of retinal involvement like RP.

Isolated retinitis pigmentosa (RP) is caused by changes (variants) in many different genes, and these genes are involved in various aspects of how the eye processes light and maintains healthy photoreceptor cells. Photoreceptor cells are specialized cells in the retina that detect light and send signals to the brain, enabling vision. However, the role of many of the genes linked to RP is still not fully understood.

RP is a complicated condition due to several genetic factors such as locus heterogeneity, where different genes can cause the same type of RP, allelic heterogeneity, where many different variants can occur within the same gene, allelic disorders, where different variants in the same gene can cause different eye conditions and variability in severity, where the symptoms and severity of RP can vary, even among people who have the same genetic variant.

GeneReviews offers an updated report on RP including the Genes Associated with Nonsyndromic Autosomal Dominant Retinitis Pigmentosa (adRP) and Genes Associated with Nonsyndromic Autosomal Recessive Retinitis Pigmentosa (arRP).

OMIM, the Online Mendelian Inheritance in Man has a table with the different subtypes of retinitis pigmentosa based on the altered gene, including a clinical synopsis of each subtype. Clicking in each subtype shows the specific subtype webpage.

Inheritance can be autosomal dominant, autosomal recessive or X-linked. There are also rare digenic forms of RP, where variants in two different genes (ROM1 and PRPH2) need to be present for the condition to develop.

Autosomal dominant disorders occur when only a single copy of a gene carries a disease-causing variant (pathogenic variant) that, alone, is sufficient and necessary for the appearance of the disease. In dominant disorders, the gene variant can be inherited from either parent or can be the result of a new variant (termed a “de novo” pathogenic variant) in the affected individual. The risk of passing the gene variant from an affected parent to offspring is 50% for each pregnancy. However, in some forms of dominant diseases including some types of dominant RP, patients who inherit the gene variant will not develop the disease or will develop a very mild form of it, due to a phenomenon called “incomplete penetrance”. Regardless of the severity of the disease in these patients, they remain capable of passing the genetic variant to their own children, who can be more severely affected.

Examples of this scenario are the RP11 gene (PRPF31) and other genes of this family (e.g., PRPF8), which cause autosomal dominant RP and are especially prone to experiencing the “incomplete penetrance” phenomenon, which poses a significant diagnostic, prognostic and reproductive risk assessment challenge. However, children who did not inherit the gene variant that causes the autosomal dominant disorder in question, even if born of affected patients, cannot develop the disease and cannot pass it on.

Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

X-linked genetic disorders are conditions caused by a disease-causing gene variant on the X chromosome and mostly affect males. Females who have a disease-causing gene variant on one of their X chromosomes are carriers for that disorder. Carrier females usually do not have symptoms because females have two X chromosomes and only one carries the gene variant. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a disease-causing gene variant, he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder can reproduce, he will pass the gene variant to all his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male children. 

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Affected populations

RP as a group of vision disorders affects about 1 in 3,000 to 1 in 4,000 people in the world. The prevalence in the U.S. and Europe is approximately 1:3,500 to 1:4,000. This means that with a population of about 330 million in the United States in February 2021 (see https://www.census.gov for continuous updates), about 82,500 to 110,000 people in the United States have RP or a related disorder. With a worldwide population presently estimated at over 7.74 billion, it can be estimated that approximately 1.94 to 2.58 million people around the world have one of these disorders. Excluding age-related macular degeneration and glaucoma, the genetic causes of which are complex and linked simultaneously to more than one gene (so called “polygenic” disorders), RP is the most common cause of inherited visual loss.

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Disorders with Similar Symptoms

Several conditions have symptoms similar to Retinitis pigmentosa (RP) and might be considered when diagnosing vision problems. Comparing these disorders is helpful in making an accurate diagnosis. Here’s a summary of these conditions and how they differ from RP:

Leber congenital amaurosis (LCA), severe early childhood-onset retinal dystrophy (SECORD) and early-onset RP (EORP): These are forms of RP where severe symptoms appear at birth or in early childhood. LCA causes visual problems early in life, usually identified by nystagmus, an involuntary eye movement. The retina may look normal for years, but testing (like an electroretinogram or ERG) will show disease. LCA can lead to corneal issues like keratoconus, a cone-shaped cornea. Genetic testing is important for LCA since there is an FDA-approved gene therapy for cases linked to the RPE65 gene.

Pericentral RP: A subtype of RP that causes vision loss around the center of vision, leaving peripheral vision intact. It progresses more slowly than typical RP but affects central vision more rapidly once symptoms appear. Unlike typical RP, it spares far peripheral vision and affects the cones (daytime vision) and rods (nighttime vision) differently.

NR2E3-related disorders: These disorders include Goldmann-Favre vitreoretinal dystrophy, enhanced S-cone syndrome (ESCS) and clumped pigmentary retinal degeneration. Characterized by congenital night blindness and better-than-normal blue color vision. The progression is slower than RP, but patients are prone to retinal complications like retinoschisis (splitting of the retina) and detachments. These disorders are inherited in an autosomal recessive pattern.

Cone-rod dystrophy (CORD): CORD affects central and daytime vision more severely than night or peripheral vision, the opposite of RP. CORD can be inherited in various ways (autosomal recessive, dominant, X-linked, or mitochondrial). Some genes, like RDS/peripherin and ABCA4are involved in both RP and CORD.

Choroideremia: A rare, X-linked condition causing the progressive loss of the retinal pigment epithelium (RPE) and choroid. It causes symptoms similar to RP, such as night blindness and loss of peripheral vision. Unlike RP, it doesn’t typically cause bone spicule-like deposits in the retina. This condition mostly affects males, while female carriers may show some signs of disease, such as pigment changes, but usually have milder symptoms.

Retinitis pigmentosa (RP) can sometimes be part of more complex disorders, called syndromes, that affect other areas of health besides vision. The most common associations include hearing loss and obesity. Below are some of the key syndromes linked to RP according to the specific symptom:

Syndromes with hearing loss:

• Usher syndrome: The most common RP-related syndrome, causing both RP and hearing impairment. There are three main types:
  • Type I: Congenital profound deafness (from birth), with balance issues
  • Type II: Mild to moderate hearing loss with stable speech development
  • Type III: Progressive hearing loss that begins later in life

Usher syndrome accounts for about 50% of all cases of combined hearing and vision loss. It is inherited in an autosomal recessive pattern, meaning both parents must carry a disease-causing gene variant for a child to be affected.

• Refsum disease: This condition causes RP, peripheral neuropathy (nerve damage leading to weakness) and progressive hearing loss. It can be reversed or stopped from worsening with a special diet restricting phytanic acid. Infantile-onset Refsum disease is more severe, often causing congenital deafness.
• Wolfram syndrome: A rare syndrome where vision problems occur, but the most common signs are optic atrophy (not RP) and diabetes. Hearing loss may also occur.
• NARP (neuropathy, ataxia, and retinitis pigmentosa): A mitochondrial condition that affects the nervous system, causing RP along with nerve problems, balance issues and late-onset stuttering. Hearing loss can be part of the condition, usually from nerve damage.

Syndromes with obesity:

• Bardet-Biedl syndrome (BBS): In addition to RP, BBS can cause obesity, extra fingers or toes (polydactyly), kidney problems, developmental delays and behavioral issues. It affects fewer than 1 in 100,000 people but can be more common in certain populations. BBS is genetically complex, with at least 22 genes involved. Most of these genes play a role in cilia function, which are tiny structures in cells important for vision, kidney function, and more.
• Alström syndrome (ALMS): This syndrome leads to a form of retinal disease called cone-rod dystrophy (CORD), as well as obesity, heart disease, diabetes and hearing loss. Unlike BBS, ALMS does not typically involve extra fingers or toes but shares other features like cilia dysfunction.

Other rare syndromes linked to RP:

• Senior-Loken syndrome (SLSN): Involves RP, kidney problems (which can lead to kidney failure) and sometimes hearing loss. It’s inherited in an autosomal recessive pattern and patients can have additional features like bone deformities and liver issues.
• Abetalipoproteinemia (Bassen-Kornzweig syndrome): A rare condition that causes RP, movement difficulties (ataxia) and fat malabsorption in the digestive system. It can be treated with vitamin supplements (A, E, and K), making early diagnosis important.

• Ataxia with vitamin E deficiency (AVED) with ataxia and neuropathy is caused by two pathogenic variants in TTPA, encoding alpha-tocopherol transfer protein and is treated with vitamin E.

It is important to note the three of the inherited disorders with retinal degeneration and other organ problems that were mentioned before have an existing treatment, abetalipoproteinemia, ataxia with vitamin E deficiency and Refsum disease.

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Diagnosis

The diagnosis of retinitis pigmentosa (RP) relies on a combination of tests that check for rod dysfunction (RP usually shows severely reduced rod function), visual field loss and retinal changes. Imaging technologies like OCT and ERG help track disease progression, while visual field-testing maps peripheral vision loss. Genetic testing may confirm the underlying cause, aiding in accurate diagnosis and future treatment planning.

Rod dysfunction is evaluated through dark adaptation test, which measures how long it takes for the eyes to adjust to darkness, which is prolonged in RP, electroretinogram (ERG), a test that measures the electrical responses of the eye’s rod and cone cells (cells in the retina responsible for vision).

Progressive vision loss occurs, as RP causes a gradual decline in photoreceptor (light-detecting cells) function, starting with the rods. RP typically begins with loss of peripheral (side) vision, often more pronounced in the upper visual field, which may lead to “tunnel vision.”  RP affects both eyes equally in terms of visual field loss and retinal damage.

To fully assess RP, the American Academy of Ophthalmology (AAO) recommends the following:

Ocular and medical history with a detailed account of symptoms and family history.

A family history of eye diseases to check for genetic patterns.

• Comprehensive eye examination including:

1. • Best corrected visual acuity (BCVA): Tests sharpness of central vision using an eye chart
   • Slit lamp biomicroscopy: Allows doctors to examine the front structures of the eye
   • Intraocular pressure: Measures the pressure inside the eye
   • Indirect ophthalmoscopy: Examines the back of the eye (retina) for signs like black pigment clumps, narrowed blood vessels, and optic nerve changes

• Imaging: To visualize retinal damage:

1. • Color fundus photography: Captures detailed images of the retina
   • Fundus autofluorescence: Uses light to detect abnormal areas in the retina
   • Spectral domain optical coherence tomography (sdOCT): A scan that shows cross-sectional images of the retina to check for thinning or abnormal layers

• Visual field testing: This test checks the ability to see objects in the side vision. RP causes blind spots or areas of missing vision, and as the disease progresses, the field of vision narrows. It’s a useful tool not only for diagnosis but also to track how fast the disease progresses and determine if a person is legally blind. Early in RP, a ring-shaped blind spot appears around 20-25 degrees from the center, which expands over time.

• Electroretinogram (ERG): The ERG is a test that measures how well retinal cells respond to light. During this test:
  • A contact lens-like electrode is placed on the eye.
  • Light flashes are used to stimulate the retina, and the electrical responses from the rods and cones are recorded.
  • RP typically shows severely reduced rod responses which is a hallmark of the disease.

1. • The full-field ERG (ffERG) measures the response from the entire retina, checking both rod and cone function. In RP, rod function is reduced early on, with cone function declining later.
   • The multifocal ERG (mfERG) focuses on the central retina, useful for detecting macular function in advanced cases of RP.

Molecular genetic testing: Testing for gene variants that cause RP can confirm the diagnosis and guide treatment options.

The presence of pigment clumps or deposits in the retina, commonly observed during histopathological examination (microscopic analysis of the affected tissue) is what gives retinitis pigmentosa (RP) its name. These pigment clumps are typically distributed in a characteristic pattern, often resembling bone spicules, and result from the migration of pigment from the retinal pigment epithelium (RPE) due to the progressive breakdown of photoreceptor cells. As photoreceptors degenerate, the RPE, which supports these cells, becomes dysfunctional, leading to the accumulation of pigment within the retina, which is a hallmark feature of RP.

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Standard Therapies

The treatment and management of retinitis pigmentosa (RP) has seen significant advancements, offering both standard treatments and emerging experimental treatments.

The current standard treatments for retinitis pigmentosa (RP) include:

Dietary supplements: The use of supplements in managing RP has shown varying levels of effectiveness, depending on the type of supplement and the individual patient.

• Vitamin A palmitate: Daily supplementation with 15,000 IU of vitamin A palmitate has been shown in some studies to slow the progression of RP. Vitamin A palmitate is a form that the body can use directly, unlike beta-carotene, which must first be converted into vitamin A by the liver. However, patients should be cautious, particularly older individuals, as high doses of vitamin A can contribute to bone density loss, increasing the risk of osteoporosis. Smokers are also advised against vitamin A supplements, as they may increase the risk of lung cancer. Regular liver function monitoring is suggested for long-term users of vitamin A.
• Vitamin E: High doses of vitamin E (400 IU daily) have not been effective in slowing RP progression and may even accelerate it. Thus, patients with RP are advised against taking vitamin E supplements beyond what is provided in a typical diet. This means that multivitamins containing high levels of vitamin E or beta-carotene should be avoided.
• Omega-3 fatty acids (DHA): DHA, an omega-3 fatty acid found in fish oil has shown promise in slowing the rate of visual field loss, especially in people with X-linked RP. While more research is needed, some studies have indicated that high DHA intake may be beneficial for retinal health.
• Tauroursodeoxycholic acid (TUDCA): TUDCA, a bile acid with protective effects on retinal cells, has been shown to slow the progression of RP in animal models. It is available as an over-the-counter supplement, though its effectiveness in humans with RP remains under investigation.
• Saffron: Known for its neuroprotective properties, saffron has shown benefits in conditions like macular degeneration and could potentially help RP patients. While there are no specific RP studies yet, saffron remains an emerging option.

Women with RP need to be cautious when taking supplements, especially vitamin A, during pregnancy, as high doses can cause birth defects. Consulting a doctor before starting or continuing supplements during pregnancy is very important.

Cystoid macular edema (CME) is a common complication of RP, causing fluid build-up in the retina that can lead to blurry vision or glare. Untreated CME can result in more severe retinal damage. Treatment options include:

• Carbonic anhydrase inhibitors (CAIs): Oral (e.g., acetazolamide) and topical (e.g., dorzolamide) medications have proven effective in reducing CME in some people with RP, preserving visual acuity and reducing retinal fluid build-up. However, it is not effective for some people with RP.
• Corticosteroids: When CAIs are ineffective, corticosteroid injections can be used, either around or inside the eye. However, the use of these treatments carries risks such as glaucoma, cataracts and infection. These risks should be weighed carefully before proceeding.

As RP progresses, many affected people may need assistive technologies for help in maintaining their independence and improving daily life:

• eSight and MyEye: These are high-tech devices that use cameras to capture and enhance visual input for users. They can magnify, adjust contrast and improve visual clarity. While costly, they can be life-changing for some RP patients.
• Sunglasses and UV protection: Exposure to light can exacerbate retinal damage, particularly in patients with RP. UV-blocking sunglasses are recommended, and some specialized lenses (like Corning photochromic filters) are available to reduce glare and improve visual comfort.
• Retinal prostheses: For those with advanced RP, retinal prosthetics like the Argus II can help regain some perception of light, shapes, and movement. Although not a cure, they offer hope for maintaining a level of independence as vision deteriorates.

Genetic counseling is advised, as is regular eye monitoring and avoiding smoking to slow progression. Resources are available to support those with progressive vision loss, including mobility and vocational training.

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Clinical Trials and Studies

Ongoing research is exploring new treatment options for RP, including gene therapy, stem cell therapy and novel medications.

Gene therapy has shown promise in addressing specific genetic forms of RP.  The FDA approved the first ocular gene therapy drug, Luxturna specifically for RP caused by RPE65 gene variants. Correction of the underlying gene variant inside the retina via gene therapy may be used in the future to treat most, if not all, forms of RP and related disorders.

It is important to understand that gene therapy means an approach aimed at correcting a gene variant, it is possible only in patients whose genetic disease has been discovered. Thus, all patients affected with RP need to do genetic testing to discover the genetic cause of their condition.

The National Eye Institute (NEI), part of the National Institute of Health, funds research about RP and other genetic eye diseases with the goal of preventing vision loss and giving people their sight back. Currently, NEI researchers are studying gene therapies, cell therapies, and new medications as experimental treatments that may become standard treatments in the future. Get the latest on NEI-supported RP research 

In addition to gene therapy, various gene-specific treatments are being developed for retinitis pigmentosa (RP) based on gene variants and disease mechanisms. These include:

• Translational read-through drugs for nonsense variants, allowing protein production
• Chaperone molecules to assist in protein folding, though some like methotrexate (MTX) are still in trials
• Synthetic molecules to improve vitamin A recycling for night vision
• mRNA editing to correct defective mRNA, showing promise in trials

Other investigational therapies include antioxidants (lutein, DHA), stem cell therapies (hRPC), electrical stimulation (TES) and artificial vision devices like retinal implants (Argus II). Optogenetics introduces light-sensitive proteins to restore some vision. Therapies like hyperbaric oxygen, CNTF implants, and various injections (e.g., triamcinolone) are being explored.

The Foundation Fighting Blindness provides a summary of clinical trials conducted for RP and other diseases on their website (https://www.fightblindness.org).

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact: www.centerwatch.com

For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

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INTERNET

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