The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of retinal pigmentation||90%|
|Abnormality of the retinal vasculature||90%|
|Abnormality of the testis||90%|
|Atypical scarring of skin||90%|
|Conductive hearing impairment||90%|
|Hypoplasia of penis||90%|
|Sensorineural hearing impairment||90%|
|Wide nasal bridge||90%|
|Decreased corneal thickness||50%|
|Type II diabetes mellitus||7.5%|
|Constriction of peripheral visual field||-|
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,email@example.com
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
The following diseases are related to Retinitis pigmentosa. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My father and his two brothers are suffering from RP. Now I have a fear that RP is a genetic disease. At this time I am not affected with RP. My dad said it affected him at the age of 35. Now I need clarity that if I get married and have children, will RP affect them? I had consulted a genetic doctor and they are saying that it may or may not affect them. If so, I will try to avoid children. See answer
My sister has retinitis pigmentosa. Can this condition be cured? See answer
How can one anticipate the progression of their disorder, as in how bad their condition is? How does one know what type of retinitis pigmentosa they have if their condition is inherited, developed in childhood, and their parents don't have it? See answer
I have peripheral vision loss, but not night blindness. After a retinal exam, my doctor told me that I have retinitis pigmentosa (RP). Is X-linked congenital stationary night blindness (XLCSNB) a form of RP or a completely different disease? I read that in the incomplete form of XLCSNB, the damage is stationary and the patient may not have night blindness. Is it possible that I am in this group? See answer
How is gene therapy being used to treat conditions like retinitis pigmentosa? Does gene therapy involve transplanting healthy human eye cells in the diseased retina? How can I learn more about clinical trials and research studies investigating new treatments for retinitis pigmentosa? See answer
Where can I find information on National Institutes of Health (NIH) funding for rare diseases, specifically retinitis pigmentosa? I am also looking for information on the cost of having this condition and current research projects. How many people have retinitis pigmentosa in the United States? See answer