Living with satisfactory vision and no comorbidity 28 years after bilateral retinoblastoma: a case report and mini literature review

Abstract

Background: Retinoblastoma is the most common primary intraocular malignancy in children, although it is a rare neural retinal tumor. Improving the quality of life is the next goal after the primary medical goal of life preservation. The genotype-phenotype correlation may vary with the progression of retinoblastoma. Expressivity is determined by different RB1 gene mutations among individuals. Herein, we share our experience on the evaluation of the long-term progression of retinoblastoma, its treatment consequences, its impact on the quality of life, and how the underlying genotypes are related to the phenotypes. We provide a review of the relevant literature and present a case of a sporadic heritable bilateral retinoblastoma. \nCase Presentation: We report the outcomes of a 28-year follow-up of a female diagnosed with an infantile disease. The patient’s best eye, according to the tumor classification and genetic results, was treated conservatively whereas the worst eye was enucleated. On re-examinations, she had complications of the treatment she received. Therefore, another intervention was administered for several years. The patient’s pathogenic variant and RB1 gene mutational inactivation were predispositions to the recurrence of the tumor and non-ocular primary malignancy. Nevertheless, the disease had no progression. The patient is stable despite her type of retinoblastoma, which is the sporadic heritable bilateral form. \nConclusions: Each phenotype of bilateral retinoblastoma varies in progression. The nature of the genetic mutation may determine its expressivity. It is of great significance to individualize every decision. In each case, the sequelae of the disease and treatment-induced complications may have an impact on the quality of the patient’s life.