Retinoblastoma

Retinoblastoma is a rare type of eye cancer that primarily affects young children. It develops in the retina, the light-sensitive tissue at the back of the eye responsible for vision. This condition can cause symptoms such as a white reflection in the pupil, vision problems, or eye redness and swelling. Because it involves the eye, it can impact a child's ability to see and may lead to serious complications if untreated. Early detection is important to prevent the cancer from spreading and to preserve as much vision as possible. The disease arises from abnormal growth of cells in the retina, forming a tumor. Treatment often involves a combination of therapies to remove or destroy the tumor.

Retinoblastoma is a malignant tumor of the retinal photoreceptor precursor cells caused by biallelic inactivation of the tumor suppressor gene RB1. It is the most common primary intraocular malignancy in children, typically presenting before age 5. The pathogenesis involves loss of function of the RB protein, leading to uncontrolled cell cycle progression and tumor formation. Clinically, it manifests as leukocoria (white pupillary reflex), strabismus, or vision loss. The disease can be hereditary (germline RB1 mutation) or sporadic (somatic mutations). Hereditary cases often present bilaterally and carry a risk of secondary malignancies. Early diagnosis and treatment are critical to prevent local invasion, metastasis, and preserve vision.