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Disease Profile

Retinitis pigmentosa

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Childhood

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ICD-10

H35.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

RP

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominantautosomal recessive, or X-linked.[1] Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation. Researchers are working to develop new treatment options for the future such as gene therapy, stem cell transplantation and prosthetic implants.[2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram
0000512
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Abnormal testis morphology
Abnormality of the testis
0000035
Abnormality of retinal pigmentation
0007703
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Atypical scarring of skin
Atypical scarring
0000987
Blindness
0000618
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Hypogonadism
Decreased activity of gonads
0000135
Hypoplasia of penis
Underdeveloped penis
0008736
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Progressive night blindness
0007675
Sensorineural hearing impairment
0000407
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Glaucoma
0000501
Hyperinsulinemia
0000842
Keratoconus
Bulging cornea
0000563
Obesity
Having too much body fat
0001513
Ophthalmoplegia
Eye muscle paralysis
0000602
5%-29% of people have these symptoms
Hyperreflexia
Increased reflexes
0001347
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978
Percent of people who have these symptoms is not available through HPO
Abnormality of fundus pigmentation
0031605
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Constriction of peripheral visual field
Limited peripheral vision
0001133
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
X-linked recessive inheritance
0001419

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    Available treatments aim to slow the progression of the disease and primarily include light avoidance and the use of low-vision aids. Some practitioners also consider vitamin A as a possible treatment option. However, taking too much vitamin A can be toxic and the effects of vitamin A on the disease appear to be relatively weak.[4] Studies have explored potential treatment with DHA, an omega-3 fatty acid naturally found in fish. While DHA is known to play a structural role in retinal cells, more research is needed to determine whether supplements should be recommended.[2]

    Current research is focused on the development of new treatments including gene therapy, retinal transplantation, and the use of a retinal prosthesis. Stem cell transplantation would involve the injection and integration of stem cells into the retina, in hopes these cells will replace dead cells and provide the missing enzymes and chemicals needed for sight. Gene therapy could potentially be used when the disease-causing mutation is known and would aim to restore production of the missing or abnormal protein. Studies with retinal prosthetics have tested devices that transform light into electrical signals that can be sent directly to the inner retina and brain, avoiding the diseased part of the outer retina. Though challenges remain, preliminary research into these technologies has been promising.[2][3]

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Voretigene neparvovec-rzyl(Brand name: Luxturna) Manufactured by Spark Therapeutics, Inc
      FDA-approved indication: An adeno-associated virus vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells determined by a treating physician.
      National Library of Medicine Drug Information Portal

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Retinitis pigmentosa. This website is maintained by the National Library of Medicine.
        • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
        • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
        • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Retinitis pigmentosa in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Retinitis pigmentosa. Click on the link to view a sample search on this topic.

            References

            1. Abigail T Fahim, Stephen P Daiger, Richard G Weleber. Retinitis Pigmentosa Overview. Gene Reviews. March 21, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1417/.
            2. Garg S. Retinitis pigmentosa: treatment. UpToDate. May 12 2015; https://www.uptodate.com/contents/retinitis-pigmentosa-treatment.
            3. Zarbin M. Cell-Based Therapy for Degenerative Retinal Disease. Trends in Molecular Medicine. February 2016; 22(2):115-34. https://www.ncbi.nlm.nih.gov/pubmed/26791247.
            4. Learning About Retinitis Pigmentosa. National Human Genome Research Institute Web site. December 27, 2013; https://www.genome.gov/13514348.

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