Retinoblastoma And RB1 Mutation

Retinoblastoma is an uncommon but deadly type of childhood eye cancer that mostly affects the retina, which is the light-sensitive tissue at the back of the eye. This cancer can occur in one or both eyes, usually before age five. A change in the RB1 gene, which is on chromosome 13, is the main genetic cause of retinoblastoma. The RB1 gene controls cell growth and stops cells from growing out of control, which makes it a tumour suppressor. If the RB1 gene is broken or absent, retinal cells can divide without control, which can lead to cancerous tumours.

Retinoblastoma can occur spontaneously or run in families. In hereditary instances, offspring receive one defective copy of RB1 from a parent, followed by a subsequent mutation in retinal cells. In sporadic circumstances, two mutations in the RB1 gene are acquired after birth. Some early indicators are a white pupil reflex (leukocoria), crossed eyes (strabismus), or trouble seeing.
Eye exams, imaging studies, and genetic testing are all part of the diagnosis. Depending on the size and distribution of the tumour, treatment options include chemotherapy, laser therapy, cryotherapy, radiation, or surgery. It is very important to detect and treat problems quickly in order to protect vision and stop cancer from spreading.