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

Retinoblastoma is the most common primary intraocular malignancy in children, although it is a rare neural retinal tumor. Improving the quality of life isthe next goalafter the primary medical goal of life preservation. The genotype-phenotype correlationmay vary with the progression ofretinoblastoma. Expressivity is determinedby different RB1gene mutations among individuals. Herein, we share our experience on the evaluation of the long-term progressionof retinoblastoma,its treatment consequences, its impact on the quality of life,and howtheunderlyinggenotypesare related to the phenotypes. We providea review of the relevant literature and present a case of a sporadic heritable bilateral retinoblastoma.

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 treatedconservativelywhereas the worst eye wasenucleated. Onre-examinations, she hadcomplications of the treatment she received. Therefore,anotherinterventionwas administeredfor several years. The patient’s pathogenic variant and RB1gene mutational inactivation were predispositionsto 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.

Each phenotype of bilateral retinoblastomavaries 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.