Retinoblastoma occurs at a rate of 3.7 cases per million in the USA, with no racial or gender predilection. Overall, about 60% of cases are unilateral and nonhereditary, 15% are unilateral and hereditary, and 25% are bilateral and hereditary. Bilateral involvement at presentation is found in 42% of cases <1 yr of age, 21% of cases in children who are 1 yr of age, and less commonly in children presenting at older ages.

Clinical Manifestations:

Only about 10% of retinoblastomas are detected by routine ophthalmologic screening in the context of a positive family history. Retinoblastoma classically presents with leukocoria, a white pupillary reflex , which often is first noticed when a red reflex is not present at routine newborn or well-child examination or in a flash photograph of the child. Strabismus often is the initial presenting complaint. Orbital inflammation, hyphema, or pupil irregularity occurs with advancing disease.

Pain usually is a feature if secondary glaucoma is present.

Diagnosis:

The diagnosis is established by the characteristic ophthalmologic findings. Biopsy is contraindicated. Evaluation usually requires an examination under general anesthesia by an Continue reading »