Retinoblastoma

Rare Cancer

Category: 眼ICD-10: C69.2

Overview

Retinoblastoma is a malignant tumor of the retina in young children caused by inactivation of the RB1 gene. About 40% of cases are hereditary (often bilateral), with a median age at diagnosis of approximately 2 years. Early detection is critical for both survival and vision preservation.

Symptoms

Leukocoria (white pupillary reflex) is the hallmark sign, often noticed in flash photographs where one pupil appears white instead of red. Strabismus and vision loss are also early indicators.

Diagnosis

Dilated fundus examination reveals white retinal tumors. Ocular MRI and ultrasound assess tumor extent, and RB1 genetic testing determines hereditary status.

Treatments

Treatment aims for globe preservation using systemic chemotherapy (carboplatin, etoposide, vincristine) combined with focal therapies (laser photocoagulation, cryotherapy). Advanced cases may require enucleation. Intra-arterial chemotherapy (melphalan) has become widely adopted.

Latest Research & Approaches

Intravitreal melphalan injection has demonstrated high efficacy for vitreous seeding. Long-term surveillance for second primary cancers in hereditary cases remains a critical area of focus.

Sources & References

NCI - Retinoblastoma Treatment
American Cancer Society - Retinoblastoma
Children's Oncology Group - Retinoblastoma