retinoblastoma
Pronunciation: ret-in-oh-blas-TOH-mah
Most common primary intraocular malignancy in children, typically presenting before age 5 with leukocoria or strabismus.
Full Definition
Retinoblastoma is a malignant tumor arising from the neural retina, representing the most frequent intraocular cancer in pediatric patients. It can be hereditary (germline mutations in RB1 gene) or sporadic, with bilateral cases almost always hereditary. Early signs include leukocoria, strabismus, or a red, painful eye. Prompt diagnosis is essential as the tumor can be fatal if it spreads beyond the eye, but early treatment often preserves both life and vision. Treatment options include chemotherapy, radiation, laser therapy, and enucleation depending on tumor size and location.
Usage
Usage note: Often abbreviated as 'Rb' in clinical notes, but full term should be used in patient-facing documents.
In Context
- "The differential diagnosis for leukocoria must always include retinoblastoma due to its life-threatening potential." — clinical guidelines
- "Genetic counseling is recommended for families with hereditary retinoblastoma to assess risks for future children." — patient consultation note