RetinoblastomaSymptoms, Doctors, Treatments, Advances & More
Learn About Retinoblastoma
Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.
Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and stops cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so cells are unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of retinoblastoma and other types of tumors in different people.
Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years.
Researchers estimate that one-third of all retinoblastomas are hereditary, which means that RB1 gene mutations are present in all of the body's cells, including reproductive cells (sperm or eggs). People with hereditary retinoblastoma may have a family history of the disease, and they are at risk of passing on the mutated RB1 gene to the next generation. The other two-thirds of retinoblastomas are non-hereditary, which means that RB1 gene mutations are present only in cells of the eye and cannot be passed to the next generation.
Ophthalmology - Wills Eye Hospital
Carol Shields is an Oncologist and an Ophthalmologist practicing medicine in Philadelphia, Pennsylvania. Dr. Shields is rated as an Elite provider by MediFind in the treatment of Retinoblastoma. She is also highly rated in 38 other conditions, according to our data. Her clinical expertise encompasses Retinoblastoma, Melanoma of the Eye, Uveal Melanoma, Vitrectomy, and Iridectomy. Dr. Shields is board certified in Ophthalmology. Dr. Shields is currently accepting new patients.
Children’s Hospital Los Angeles - The Vision Center
Jesse Berry is an Ophthalmologist practicing medicine in Los Angeles, California. Dr. Berry is rated as an Elite provider by MediFind in the treatment of Retinoblastoma. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Retinoblastoma, Melanoma of the Eye, Metastatic Uveal Melanoma, Vitrectomy, and Cataract Removal. Dr. Berry is board certified in Ophthalmology. Dr. Berry is currently accepting new patients.
Emory Eye Center
Hans Grossniklaus is an Ophthalmologist practicing medicine in Atlanta, Georgia. He has been practicing medicine for over 46 years. Dr. Grossniklaus is rated as an Elite provider by MediFind in the treatment of Retinoblastoma. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Melanoma of the Eye, Uveal Melanoma, Metastatic Uveal Melanoma, Vitrectomy, and Corneal Transplant. Dr. Grossniklaus is board certified in American Board Of Pathology, 1987.
Summary: In this research study investigators want to learn more about treatment of advanced or recurrent retinoblastoma. For children with retinoblastoma that have an advanced stage of presentation in one eye or if they have failed all conventional treatment, eye removal is considered. This study will investigate the utility of a chemoplaque(s) to salvage eyes involved with retinoblastoma. The goal of the...
Summary: The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Published Date: December 01, 2017
Published By: National Institutes of Health