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) |
| Iris hypopigmentation | Very frequent (present in 80%-99% of cases) |
| Abnormality of the optic nerve | Frequent (present in 30%-79% of cases) |
| Albinism | Frequent (present in 30%-79% of cases) |
| Freckling | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Photophobia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Visual impairment | Frequent (present in 30%-79% of cases) |
| Basal |
Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Squamous cell carcinoma of the skin | Occasional (present in 5%-29% of cases) |
| - | |
| Blue irides | - |
| Freckles in sun-exposed areas | - |
| Hypopigmentation of the fundus | - |
| Hypoplasia of the fovea | - |
| Red hair | - |
| Reduced visual acuity | - |
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.
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.
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.
