Rare Pediatrics News
Disease Profile
Retinoblastoma
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
C69.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
RB; Retinal tumor; Retinal cancer;
Categories
Rare Cancers
Summary
Retinoblastoma (RB) is a rare type of eye
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Retinoblastoma | 0009919 | |
30%-79% of people have these symptoms | ||
0000501 | ||
Hypopyon | 0031615 | |
Leukocoria | 0000555 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
5%-29% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Cellulitis |
Bacterial infection of skin
Skin infection
[ more ] |
0100658 |
Heterochromia iridis |
Different colored eyes
|
0001100 |
Hyphema | 0011886 | |
Leiomyosarcoma | 0100243 | |
Leukemia | 0001909 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
0002861 | ||
Osteosarcoma |
Bone cell cancer
|
0002669 |
Red eye | 0025337 | |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Retinal calcification | 0007862 | |
Rhabdomyosarcoma | 0002859 | |
Subretinal pigment epithelium hemorrhage | 0025244 | |
Uveitis | 0000554 | |
Vitreous hemorrhage | 0007902 | |
Vitritis | 0011531 | |
1%-4% of people have these symptoms | ||
Cleft roof of mouth
|
0000175 | |
Ewing |
0012254 | |
Glioma | 0009733 | |
Pineoblastoma | 0030408 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Pinealoma | 0010799 | |
0001428 | ||
Sporadic |
No previous family history
|
0003745 |
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
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
|
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Differential diagnoses, particularly in unilateral cases, include anterior chamber or lens abnormalities especially PHPV (persistence of hyperplastic vitreous), toxocariasis, X-linked retinoschisis, uveitis, medulloepithelioma, von Hippel disease, Norrie disease, retinopathy of prematurity and Coats disease (the most difficult differential diagnosis).
Visit the Orphanet disease page for more information.
|
Learn more
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Retinoblastoma. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Retinoblastoma. Click on the link to view a sample search on this topic.
References
- Retinoblastoma. Genetics Home Reference. April 2009; https://ghr.nlm.nih.gov/condition=retinoblastoma. Accessed 4/29/2011.
- General Information About Retinoblastoma. Retinoblastoma Treatment (PDQ). March 2012; https://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/patient. Accessed 4/2/2012.