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||
|80%-99% of people have these symptoms|
|Abnormal retinal vascular morphology||
Abnormality of retina blood vessels
Abnormality of the testis
|Abnormality of retinal pigmentation||0007703|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Atypical scarring of skin||
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Decreased activity of gonads
|Hypoplasia of penis||
Mental retardation, nonspecific
Mental-retardation[ more ]
Involuntary, rapid, rhythmic eye movements
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
|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 ]
|30%-79% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Having too much body fat
Eye muscle paralysis
|5%-29% of people have these symptoms|
Type 2 diabetes
Type II diabetes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of fundus pigmentation||0031605|
|Constriction of peripheral visual field||
Limited peripheral vision
Poor night vision[ more ]
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.
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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
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.
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.
Researchers Find Potential New Gene Therapy for Blinding Disease
August 23, 2018
NIH-Funded Researchers Reverse Congenital Blindness in Mice
August 22, 2018
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
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