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Disease Profile
Retinitis pigmentosa
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
Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
RP
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Retinitis pigmentosa (RP) is a group of
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 |
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 |
Decreased activity of gonads
|
0000135 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
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 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
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 |
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 | |
0000006 | ||
0000007 | ||
Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
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
Current research is focused on the development of new treatments including
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-associatedvirus 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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Besides non syndromic forms, there are syndromic forms of RP of which the most frequent are Usher syndrome (RP and deafness) and BardetBiedl syndrome (RP and metabolic impairment). RP is to be distinguished from macular dystrophies (peripheral visual field is normal) and Leber congenital amaurosis (congenital retinal dystrophy) (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: [email protected]
Website: https://www.fightingblindness.org/ -
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: [email protected]
Website: https://www.preventblindness.org/
Organizations Providing General Support
-
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.org/
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
- 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/.
- Garg S. Retinitis pigmentosa: treatment. UpToDate. May 12 2015; https://www.uptodate.com/contents/retinitis-pigmentosa-treatment.
- 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.
- Learning About Retinitis Pigmentosa. National Human Genome Research Institute Web site. December 27, 2013; https://www.genome.gov/13514348.
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