Retinoblastoma; a Scientific and Clinical Review

Abstract

Introduction: Retinoblastoma is a devastating autosomal dominant genetic disease usually seen in children. It causes tumors of the retina which can lead to severe visual impairments and in some cases death. Body: A defective or absent pRB protein, from a mutated or deleted RB1 gene, causes genomic instability and allows retinoblasts to undergo rapid mitosis. This can lead to the formation of tumors within the retina. As retinoblastoma usually affects infants and young children, they may not notice any changes in their vision or ocular discomfort. The most commonly observed sign of retinoblastoma is leukocoria, caused by the light colored tumor within the eye. There are many treatment options available, some of which include chemotherapy, enucleation, external beam radiation, and radioactive plaques. If caught early, the prognosis is usually very good in the United States. Unfortunately, in second and third world countries the outlook can be significantly worse. Discussion: Retinoblastoma is a complex disease which can have severe health impacts and endanger the life of the afflicted child. Although this disease is rare, it is the most common primary ocular malignancy in children. Retinoblastoma is caused by a disruption of the RB1 gene. Research has led to the triple hit hypothesis that three mutations are required for retinoblastoma formation. Tumors often appear early as translucent thickenings of the retina and evolve into dome-shaped, white, vascularized masses. The most common treatments include chemotherapy, radiation and enucleation. Early detection is best accomplished when young children receive comprehensive eye examinations. Catching the disease before it metastasizes greatly improves a child’s chance of survival. Early diagnosis and subsequent treatment could ultimately save a child’s vision or even his or her life.