Staying Current: Genetic Diseases and Research Progress

Patients with retinoblastoma are at risk for developing secondary malignant neoplasms (SMNs). A carefully designed treatment protocol that is individualized for each patient can reduce the risk of SMNs and improve the outcome. Therapeutic advances and clinical trials have improved the prognosis. However, the selected course of therapy is dependent upon many factors, such as whether the disease is bilateral or unilateral, familial or sporadic, the size and location of the tumor within the eye, and the child's age.

1. GeneReviews (GeneTests) - gives a clinical summary of the disease, a yellow pages listing of clinical testing laboratories, and associations for patient referral



• Log on to the GeneTests homepage
• Click on the GeneReviews button located on the top of the page
• Enter retinoblastoma and click on the search button
• Review the Diagnosis section for current testing techniques and diagnosis
• Read the Differential Diagnosis section to review ocular conditions which can clinically simulate retinoblastoma
• Review the Genetic Counseling section to determine the family history so that informed medical decisions may be made


2. OMIM - summarizes the research, resulting in medical advances for the treatment of retinoblastoma, including discussion of the various RB1 gene mutations. The OMIM record is frequently updated, providing the clinician with an efficient way to quickly locate major research findings



• Click on Limits feature
• Click on Clinical Synopsis option
• Enter retinoblastoma in search box and click on Go button
• Click on +180200 to review history
• The paragraph describing Kivela's 1999 meta-analysis discusses trilateral retinoblastoma

Additional Resources

The National Cancer Institute and Clinical Trials provide additional information for the clinician..

National Cancer Institute

See National Cancer Institute for additional information on retinoblastoma

Clinical Trials

See Clinical Trials for information on current clinical trials