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) |
| Choroidal melanoma | Very frequent (present in 80%-99% of cases) |
| Visual loss | Very frequent (present in 80%-99% of cases) |
| Ciliary body melanoma | Frequent (present in 30%-79% of cases) |
| Iris melanoma | Frequent (present in 30%-79% of cases) |
| Retinal detachment | Frequent (present in 30%-79% of cases) |
| Abnormal visual accommodation | Occasional (present in 5%-29% of cases) |
| Abnormality of refraction | Occasional (present in 5%-29% of cases) |
| Increased intraocular pressure | Occasional (present in 5%-29% of cases) |
| Inferior lens subluxation | Occasional (present in 5%-29% of cases) |
| Metamorphopsia | Occasional (present in 5%-29% of cases) |
| Mydriasis | Occasional (present in 5%-29% of cases) |
| Photopsia | Occasional (present in 5%-29% of cases) |
| Vitreous hemorrhage | Occasional (present in 5%-29% of cases) |
| Zonular |
Occasional (present in 5%-29% of cases) |
| Inflammatory abnormality of the eye | Very rare (present in 1%-4% of cases) |
| Ocular pain | Very rare (present in 1%-4% of cases) |
| - | |
| Intraocular melanoma | - |
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
18th Annual Meeting of the PanAmerican Society of Pigment Cell Research
Sunday, September 8, 2013 -
Wednesday, September 11, 2013
Location: Fluno Center, University of Wisconsin,
Madison,
WI
Description: The meeting is expected to enhance and benefit, by bringing together a relatively small group of scientists, the knowledge, collegiality, collaboration, and synergy within the pigment cell research community. More importantly, the meeting serves to encourage and support young investigators in their careers.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
Overcoming Barriers to International Clinical Trials for Rare Cancers
Friday, December 10, 2010
Location:
Bethesda,
Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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