Retinoblastoma Case Study

One of the differential diagnosis of pediatric retina tumors is always retinoblastoma. Once there is a retina tumor in children, you have to think about it. A good eye examination, a good ultrasonography and any other ancillary tests are essential for the diagnosis.

Retinoblastoma is the most common primary ocular tumor in pediatric patients. The incidence accounts for 1:20,000 live births and approximately 300 new cases per year in the US. Two-thirds of cases were diagnosed before the age of two and it is rare for the diagnosis after five years of age.1 The improvement of treatment strategies evolving from enucleation or external beam radiation to more advanced globe-saving therapies in the recent years increases the survival rate of the

The heterogeneity and calcification detection within the intraocular mass from ultrasonography provide the strong evidence for the diagnosis of retinoblastoma. Specifically, calcium within an intraocular mass in children before the age of three is highly suspicious for retinoblastoma until proven otherwise. Although, histopathological examination of enucleated globes showed approximately 95% of calcium deposit within the tumor (J.D. Bullock), the ocular ultrasonography is not as sensitive as other advanced imaging modalities to detect the calcification (Gallie BL). Most of the times, you would need other imaging modalities such as computed tomography (CT) scan or magnetic resonance imaging (MRI). CT scan can detect calcification the best, but with concern of radiation exposure in retinoblastoma patients with germline mutation, it is generally avoided. (Smith ev.) Moreover, CT scan and MRI can detect the extraocular extension and intracranial lesions in patients with trilateral disease which leads to the appropriate management afterward. The benefit of MRI over CT scan is the detection of the optic nerve invasion. However, MRI is less sensitive to detect intralesional calcification than CT

Retinoblastoma does not show telangiectatic vasculature with aneurysmal dilatation like the patients with Coat’s disease. And it is absolutely useful in differentiating retinoblastoma cases with Coat’s like response from the actual Coat’s disease. The anterior segment photography derived from the IVFA capturing the iris vasculature detail is also helpful in guidance the diagnosis of advanced retinoblastoma. The iris neovascularization from advanced disease will show and you can evaluate the extension of the mass in group D and E retinoblastoma. (kim