Other Names for this Disease
- Retinal tumor
- Retinal cancer
- Eye cancer, retinoblastoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
retina that typically develops before the age of 5. It usually affects only one eye, but 1/3 of children with RB develop cancer in both eyes. The first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. Other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is caused by mutations in the RB1 gene. In about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. In the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. Retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. Hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). Retinoblastoma that occurs in only one eye is usually not inherited. Retinoblastoma that occurs in both eyes is thought to be inherited.Retinoblastoma (RB) is a rare type of eye cancer in the
Last updated: 4/4/2012
- Retinoblastoma. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition=retinoblastoma. Accessed 4/29/2011.
- General Information About Retinoblastoma. Retinoblastoma Treatment (PDQ). March 2012; http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/patient. Accessed 4/2/2012.
- Genetics Home Reference (GHR) contains information on Retinoblastoma. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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.
- 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.