About Retinoblastoma
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
Retinoblastoma (RB) is a rare type of eye cancer in the retina that typically develops in early childhood. 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 genetic changes in the RB1 gene. In about 60% of people with Retinoblastoma, genetic changes are not inherited and occur only in retinal cells. In the other 40% of individuals, genetic changes 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 genetic change 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.
Causes
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current data, this disease can be inherited in the following pattern(s):
Autosomal Dominant: Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.
People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.