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 the retinal vasculature||90%|
|Anterior chamber synechiae||90%|
|Aplasia/Hypoplasia of the iris||90%|
|Deeply set eye||90%|
|Narrow nasal bridge||90%|
|Neoplasm of the eye||90%|
|Opacification of the corneal stroma||90%|
|Abnormality of the vitreous humor||50%|
|Aplasia/Hypoplasia of the lens||50%|
|Sensorineural hearing impairment||50%|
|Abnormality of immune system physiology||7.5%|
|Abnormality of the diencephalon||7.5%|
|Abnormality of the helix||7.5%|
|Abnormality of the pupil||7.5%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Attention deficit hyperactivity disorder||7.5%|
|Cerebral cortical atrophy||7.5%|
|Decreased body weight||7.5%|
|Hypoplasia of the zygomatic bone||7.5%|
|Thin vermilion border||7.5%|
|Hypoplasia of the iris||-|
|Intellectual disability, progressive||-|
|Shallow anterior chamber||-|
|X-linked recessive inheritance||-|
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.
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 sister and I are carriers of Norrie disease. We feel like we have some of the symptoms of the disease. Is this possible? See answer
I have 2 sons, a 12 year old and 22 year old. Both were blind after the birth and diagnosed with Norrie. Do you know if any progress has been made anywhere on earth to restore vision including but not limited to stem cell treatments? See answer
Is there a relationship between Norrie disease and autism? If so, what are the chances for an individual to have both conditions? See answer