Retinoblastoma is the most common intraocular malignancy among children. The disease usually occurs in children under 5-years of age, and about four in a million infants and children are estimated to be affected by retinoblastoma. Retinoblastoma may be either unilateral or bilateral; affecting one or both the eyes.
The most common clinical finding in retinoblastoma is leukocoria, or cat's eye reflex, a visible whiteness in the pupil. Other symptoms like strabismus, glaucoma, inflammation of the eye, retinal detachment, and proptosis are also seen. Diagnosis usually involves examination of the eye using indirect ophthalmoscopy, and further imaging studies. Since RB1 is the only gene known to be associated with retinoblastoma, molecular genetic tests are available to identify germline mutations in the gene. In fact, mutations can even be detected in the fetus and treatment could then be started early. Small tumors can be effectively treated using laser surgery, or cryotherapy. Larger tumors may require enucleation, or external beam radiotherapy. Early diagnosis and proper treatment of the disease can result in a high survival rate, greater than 90%. However, an increase in the age of diagnosis greater than 2-years is associated with decreasing rates of survival.