Retinoblastoma
| Retinoblastoma | |
|---|---|
| A pathology specimen of a retinoblastoma tumor from an enucleated eye of a 3-year-old female | |
| Specialty | Neuro-oncology |
| Symptoms | Leukocoria seen in patient's pupil in photos Poor vision One or both eyes turning inward or outward Eye pain |
| Usual onset | Under 3 years old |
| Treatment | Surgery (including eye removal in advanced cases) Chemotherapy (after surgery in cases of metastasis) Focal therapy |
| Frequency | ~250–300 children diagnosed annually (United States) |
Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common primary malignant intraocular cancer in children, and 80% of retinoblastoma cases are first detected in those under 3 years old.
Though most children in high income countries survive this cancer, they may lose their vision in the affected eye(s) or need to have the eye removed.
Almost half of children with retinoblastoma have a hereditary genetic defect associated with it. In other cases, retinoblastoma is caused by a congenital mutation in the chromosome 13 gene 13q14 (retinoblastoma protein).