Retinoblastoma with Family History or Germline RB1 Mutation When Globe Salvage Therapy Has Not Controlled Vitreous and Subretinal Seeds

Clinical Scenario

This protocol addresses bilateral retinoblastoma in patients with a confirmed germline RB1 mutation or a family history of retinoblastoma — a population with hereditary predisposition requiring specific management considerations. The cases in scope do not exhibit high-risk features such as extraocular extension or significant choroidal or optic nerve invasion.

After Globe Salvage Therapy Has Not Achieved Its Goals

Prior globe-sparing interventions — which may include intra-arterial chemotherapy (IAC), intravitreal chemotherapy, consolidation cryotherapy, thermotherapy (TTT), plaque radiotherapy, or intracameral chemotherapy — are pursued first to preserve the eye. This protocol is reached when those measures have failed to achieve control and resolution of vitreous and subretinal seeds with tumor regression.

Treatment Approach (Partial Overview)

At this stage, management centres on a definitive surgical intervention to the affected eye. Whether additional systemic therapy is indicated subsequently depends on specific histopathological findings identified after surgery. The complete regimen — including full eligibility criteria, sequencing, and all treatment options — is available through the structured protocol.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.4103/ijo.IJO_721_20

Current indications for IVC include patients with bilateral disease, confirmed germline mutation, family history of retinoblastoma, or cases with suspected optic nerve or choroidal invasion.

It is usually reserved for massive group E tumors, poor tumor visualization (e.g., due to vitreous hemorrhage), presence of extraocular extension, suspected invasion of the optic nerve or choroid, or recalcitrant tumors that have failed previous globe salvage therapies (e.g., IAC, IvitC, plaque radiotherapy, etc.).

High risk retinoblastoma warrants enucleation and additional 6‑9 cycles of high‑dose IVC to prevent metastatic disease.

View source ↗