aNo molecular information

bProband 5%

mosaic

Bilateral retinoblastoma

At Risk for RB1 mutation

Negative for RB1 Mutation

Conventional Screening

Fig. 9.11  (a) The proband with bilateral retinoblastoma had three siblings and four first cousins, each of whom underwent a series of examinations including under anesthetic because they were at risk to also have retinoblastoma. In the next generation, there were seven infants at risk for retinoblastoma who were similarly examined, because no constitutional RB1 mutation could be identified in the proband. (b) Increased testing sensitivity discovered the proband’s RB1 mutation that was present in only 5% of her cells (mosaicism). Since mosaicism cannot be inherited, only her own children were at risk. Each was tested and found to not have the mutation. Therefore, molecular analysis shows that no children in this family need surveillance for retinoblastoma

9.5.6  Consequences

Failure to identify retinoblastoma tumors at the earliest time and smallest possible size compromises visual outcome and increases the risk of lethal spread of tumor outside the eye. Intensity of treatment required for cure and the risks of that treatment are increased.

and modern equipment are available to optimize outcomes.

Focal therapy is intended to eradicate small or residual intraocular tumor after chemotherapy [35]. It is repeated over time until all tumors are rendered inactive, as a calcified mass or a flat, pigmented chorioretinal scar. Further treatment is indicated for any suspicious translucent, vascularized, or elevated mass, or for tumor extending beyond the documented margins of scars. Fluorescein angiography is helpful for detecting tumor vasculature (Fig. 9.9). Focal therapy should be applied in serial multiple sessions to avoid complications from too aggressive treatment at any one time.

9.7  Enucleation Indications SOP

9.7.1  Objective

To determine when the enucleation of the eye is the optimal treatment.

9.7.2  Applicability

Ophthalmologists, retinoblastoma team

9.7.3  Scope

To define clinical circumstances when the removal of the eye is the optimal treatment.

9.5.7  Related SOPs

GENE surveillance; GENE RB1 mutation identification; GENE reduced penetrance

9.6  Treatment SOP

Optimal retinoblastoma management requires a multidisciplinary group delivering care in specialized centers,­ where special expertise, up-to-date protocols,

9.7.4  Clinical Significance

The IIRC groupings for each eye are crucial factors for the consideration of enucleation; removing a retino- blastoma-containing eye is an excellent way to cure the disease when it is confined within the eye:

•Unilateral cases:

−−Removing a retinoblastoma-containing eye is recommended since it is an excellent way to cure the disease confined within the eye; indicated for Group C, D, and E eyes.