Retinoblastoma.
Retinoblastoma (RB) is the most common intraocular malignancy of childhood, occurring in approximately 1 in 20,000 live births. It arises from pluripotential retinal progenitor cells. Mutations of the RB1 gene interfere with regulation of the cell cycle. Patients who harbor a germinal mutation of the RB1 gene are at risk for the development of second, non-ocular tumors.
Lueder
G T
GT
Department of Opthalmology and Visual Science, Washington University School of Medicine, St Louis, MO 63110.
Smith
M E
ME
D002675:Child, Preschool; D005134:Eye Neoplasms / Q000235:genetics*; D016161:Genes, Retinoblastoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*