Retinoblastoma: Update on Current Management

Abstract

Retinoblastoma (Rb) is the most common primary intraocular malignancy in children with an incidence from 1:15,000 to 1:20,000 live births. It can present as a unilateral or bilateral involvement of the eyes. It is generally induced by biallelic mutation of the RB1 tumor suppressor gene that leads to malignant transformation of primitive retinal cells. The most common presentation is leukocoria, followed by strabismus. The initial assessment and future treatment of such tumor should be based on the laterality, the stage of the tumor, and the presenting age of the child. In general, the primary target of therapy is to preserve the child's life. However, preserving the globe and preserving vision should be achieved whenever it's possible. Retinoblastoma treatment has evolved from enucleating the affected globe to also involving external beam radiation therapy, cryotherapy, laser photocoagulation, thermotherapy, brachytherapy, and chemotherapy (intravitreal, intra-arterial, and systematic). This chapter is intended to discuss briefly the clinical presentation of Rb, as well as a comprehensive review about the evolution and current treatment modalities with a focus on cases with low-risk features.

The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma

“…Retinoblastoma is a rare childhood cancer with the incidence of 1 in every 15,000 to 20,000 live births [10]. It constitutes 3% of all childhood cancers [11].…”

“…e most common presenting sign of retinoblastoma is white pupillary reflex called leukocoria [10]. Strabismus appears to be the second most common feature and occurs when the tumour involves the central vision [10].…”

“…e most common presenting sign of retinoblastoma is white pupillary reflex called leukocoria [10]. Strabismus appears to be the second most common feature and occurs when the tumour involves the central vision [10]. Other presentations of retinoblastoma include nystagmus, decreased vision, and ocular inflammation [1,10].…”

“…Strabismus appears to be the second most common feature and occurs when the tumour involves the central vision [10]. Other presentations of retinoblastoma include nystagmus, decreased vision, and ocular inflammation [1,10]. Less commonly, the following presentations might be encountered: rubeosis iridis, vitreous haemorrhage, spontaneous hyphaema, glaucoma, anisocoria, orbital cellulitis, proptosis, painful eye, and fever [1,10].…”

“…Other presentations of retinoblastoma include nystagmus, decreased vision, and ocular inflammation [1,10]. Less commonly, the following presentations might be encountered: rubeosis iridis, vitreous haemorrhage, spontaneous hyphaema, glaucoma, anisocoria, orbital cellulitis, proptosis, painful eye, and fever [1,10]. In case of metastatic disease, children might present with systemic symptoms such as weight loss, headache, nausea, vomiting, and neurological abnormalities on examination [1].…”