Retinoblastoma
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What is retinoblastoma?
Retinoblastoma is a rare type of eye cancer that develops in the retina, the part of the eye that detects light and color. Although this disorder can occur at any age, it usually develops in young children.
Most cases of retinoblastoma occur in only one eye, but both eyes can be affected. The most common sign of this disorder is a visible whiteness in the normally black pupil (the opening through which light enters the eye). This unusual whiteness is particularly noticeable in photographs taken with a flash, and is called cat's eye reflex or leukocoria. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus); persistent eye pain, redness, or irritation; and blindness or poor vision in the affected eye.
People with the hereditary form of retinoblastoma may also develop a tumor in the brain called pinealoma. Pinealoma develops in the pineal gland, which is located at the base of the skull. The presence of retinoblastoma and pinealoma together is called trilateral retinoblastoma. Later in life, people with hereditary retinoblastoma also have an increased risk of developing bone cancer (osteosarcoma), soft tissue cancers, a form of skin cancer called melanoma, and other types of cancer.
How common is retinoblastoma?
Retinoblastoma affects an estimated 1 in 15,000 to 20,000 live births. This disease is diagnosed in about 250 children per year in the United States. It accounts for about 3 percent of all cancers in children younger than 15 years.
What are the genetic changes related to retinoblastoma?
Retinoblastoma is a chromosomal condition related to chromosome 13.
Variations of the RB1 gene increase the risk of developing retinoblastoma.
Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unable to effectively regulate cell division. As a result, cells divide uncontrollably and form a tumor.
A small percentage of retinoblastoma cases are caused by a deletion in the region of chromosome 13 that contains the RB1 gene. Geneticists refer to this region as 13q14. Children with these chromosomal deletions may also have mental retardation, slow growth, and characteristic facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).
Can retinoblastoma be inherited?
Mutations in the RB1 gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase cancer risk. A person with retinoblastoma may inherit an altered copy of the gene from one parent, or the altered gene may be the result of a new mutation. For retinoblastoma to develop, a second mutation in the other copy of the RB1 gene must occur in retinal cells during the person's lifetime.
If there is a family history of the disease or if a person develops tumors in both eyes, the RB1 mutation is probably in all of the person's cells, including sperm or egg cells. This person is said to have the inherited form of retinoblastoma, and there is a risk of passing on the mutated RB1 gene to the next generation. However, if only one eye is affected and if there is no family history of the disorder, the RB1 gene may be mutated only in tumor cells. This person likely has the noninherited form of retinoblastoma, and there is no increased risk to other family members.
The small number of retinoblastoma cases caused by chromosome 13 deletions are usually not inherited. These chromosomal changes occur as random events during the formation of reproductive cells (eggs and sperm) or during cell division early in fetal development.
Source: National Institutes of Health
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Louisiana Optometrists Partner With Sens. Landrieu and Vitter, U.S. House Leaders in Improving Infant Eye and Vision Care
2009 AUG 11 - (NewsRx.com) -- Due to the overwhelming number of children with eye and vision problems across the United States, Louisiana optometrists are devoting appointments to no-cost, comprehensive eye and vision assessments for infants between six to 12 months of age through InfantSEE . InfantSEE , a public health program developed by Optometry's Charity™ - The AOA Foundation in partnership with The Vision Care Institute™, LLC a Johnson & Johnson company, was designed to provide professional eye care for infants nationwide at no-cost, regardless of family income or number of eligible children. "InfantSEE is an excellent example of a wellness program that improves public health while driving down future health care costs," said U.S. Sen. Mary Landrieu (D-LA). "Louisiana doctors offering this no-cost exam are doing a great service to their community. I urge all families to take advantage of this free service. Early detection and treatment is the key to addressing vision problems that may affect a child's ability to read and learn." "This very worthy program is helping ensure that children across Louisiana are provided with access to quality vision care and preventative screenings," said U.S. Sen. David Vitter (R-LA). "Undetected vision problems can have a serious effect on the wellbeing of a child. The InfantSEE program will provide infant screening services to help diagnose and detect potential problems before they become serious and that's something that all parents should take advantage of." Leading members of the U.S. House of Representatives delegation from Louisiana have also expressed their support for the InfantSEE program. U.S. Reps. Steve Scalise, Anh "Joseph" Cao, Charlie Melancon, John Fleming, M.D., Rodney Alexander, William "Bill" Cassidy, M.D. and Charles W. Boustany, Jr., M.D. urged local parents to have their infant's eyes assessed during InfantSEE Week. To encourage parents to take advantage of the InfantSEE program and to help protect infant vision and eye health, Governor Bobby Jindal has officially declared Monday, August 3 through Friday, August 14 InfantSEE Week in Louisiana. One in 10 children is at risk from undiagnosed eye and vision problems, which, if undetected, could lead to permanent vision impairment, and in rare cases, life-threatening health risks. However, only 14 percent of children from infancy to age six have had a comprehensive eye assessment from an eye care professional. In Louisiana, great strides are being made to ensure that potential eye and vision problems are detected early. Infant eye assessments have been available in Louisiana since the InfantSEE program launched in 2005. "Many parents are surprised to learn that the first year of life is one of the most critical stages of a child's visual development," said Dr. Jeff Anastasio, a Louisiana optometrist and InfantSEE provider. "It's the ideal time to detect eye and vision problems before these conditions worsen or cause developmental delays." The program launched in 2005 with support from former President Jimmy Carter, honorary national chair. Nearly 8,000 optometrists nationwide volunteer their time to provide assessments to babies in their communities. The majority of vision problems detected included retinoblastoma (eye cancer), severe hyperopia (farsightedness), myopia (nearsightedness), congenital glaucoma and congenital cataract. "As a parent, one of my biggest concerns is making sure my child's development is on track," said Crystal Payne, a local mother of Randy, age 19 months. "When I learned about the InfantSEE program, it was an obvious decision to take Randy for an assessment. Knowing his vision is healthy puts my mind at ease!" To continue to improve infant eye assessment rates in Louisiana, parents can bring their infant in for a no-cost assessment at the VSP InfantSEE Mobile Clinic stationed in towns across the state. Also, for those parents who can't make it to the VSP InfantSEE Mobile Clinic, optometrists from around the state will be providing these no-cost InfantSEE eye assessments from August 3 through 14 in their offices by appointment. VSP InfantSEE® Mobile Clinic Schedule - Walk-ins accepted Monday, August 3 from 9 a.m. - 5 p.m. New Orleans/Gretna, L.A. - Academy Sports: 50 Westbank Hwy., Gretna Tuesday, August 4 from 9 a.m. - 5 p.m. New Orleans, L.A. - Wal-Mart: 1901 Tchoupitoulas St. Wednesday, August 5 from 9 a.m. - 5 p.m. Slidell, L.A. - North Shore Square Mall: 150 Northshore Blvd. Thursday, August 6 from 9 a.m. - 5 p.m. Baton Rouge, L.A. - McKinley Alumni Association: 1520 Thomas Delpit Dr. Friday, August 7 from 9 a.m. - 5 p.m. Baton Rouge, L.A. - Wal-Mart: 9350 Cortana Place Monday, August 10 from 9 a.m. - 5 p.m. Lafayette, L.A. - Mall of Acadiana: 5725 Johnston St. Tuesday, August 11 from 9 a.m. - 5 p.m. Lake Charles, L.A. - Wal-Mart: 3453 Nelson Rd. Wednesday, August 12 from 9 a.m. - 5 p.m. Alexandria, L.A. - Wal-Mart: 2050 N. Mall Dr. Thursday, August 13 from 9 a.m. - 5 p.m. Monroe, L.A. - Pecanland Mall: 4700 Milhaven Rd. Friday, August 14 from 9 a.m. - 5 p.m. Shreveport, L.A. - Uptown Mall: 4800 Line Ave Participating Optometrist offering NO-COST InfantSEE® Assessments in their Offices - Appointment Required Keywords: Pediatrics, Public Health, Wellness, InfantSEE. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2009, Life Science Weekly via NewsRx.com.
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