retinoblastoma
Pronunciation: RET-in-oh-blas-TOH-mah
The most common primary intraocular malignancy in children, arising from neural retinal cells and often presenting with leukocoria.
Full Definition
Retinoblastoma is a rare but serious ocular cancer that develops in the retina of infants and young children, typically before age 5. It can be hereditary (germline) or non-hereditary (somatic), with hereditary cases often presenting bilaterally. The classic presentation includes leukocoria (white pupillary reflex), strabismus, and decreased vision. Early detection is crucial as advanced disease can lead to extraocular extension and metastasis. Treatment options include enucleation, external beam radiation, plaque brachytherapy, laser photocoagulation, cryotherapy, and intra-arterial or intravitreal chemotherapy, depending on the extent and location of the tumor.
Usage
Usage note: Often associated with leukocoria presentation; ensure distinction from benign causes of white pupillary reflex.
In Context
- "Bilateral retinoblastoma was diagnosed following genetic counseling and RB1 gene testing." — Genetics consultation
- "The infant presented with leukocoria concerning for retinoblastoma." — Emergency department note