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 | Very frequent (present in 80%-99% of cases) |
| Abnormality of the optic disc | Very frequent (present in 80%-99% of cases) |
| Severe visual impairment | Very frequent (present in 80%-99% of cases) |
| Abnormal electroretinogram | Frequent (present in 30%-79% of cases) |
| Abnormality of neuronal migration | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the cerebellar vermis | Frequent (present in 30%-79% of cases) |
| Cataract | Frequent (present in 30%-79% of cases) |
| Encephalocele | Frequent (present in 30%-79% of cases) |
| Hemiplegia/hemiparesis | Frequent (present in 30%-79% of cases) |
| Keratoconus | Frequent (present in 30%-79% of cases) |
| Muscular hypotonia | Frequent (present in 30%-79% of cases) |
| Nystagmus | Frequent (present in 30%-79% of cases) |
| Seizures | Frequent (present in 30%-79% of cases) |
| Hearing impairment | Occasional (present in 5%-29% of cases) |
| Intellectual disability | Occasional (present in 5%-29% of cases) |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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
2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference
Sunday, February 13, 2011 -
Friday, February 18, 2011
Location:
Ventura,
CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
The following diseases are related to Leber congenital amaurosis. If you have a question about any of these diseases, you can contact GARD.
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What are other issues that might come up as our son grows up with Leber congenital amaurosis? See answer
