Retinoblastoma is the most common intraocular malignancy in children, typically presenting before the age of 5, with around 50 new cases in the UK each year. Around 40% of affected children will carry a germline mutation of the RB1 tumour suppressor gene and will face not only the risk of retinoblastoma in early childhood, but a lifelong risk of second malignancy and challenging reproductive choices with a 1 in 2 chance of passing on the mutation to their offspring. Over the last 2 decades there have been significant developments in the management of retinoblastoma which have led to improved ocular survival, better visual outcomes and greater reproductive choices for affected individuals. This paper highlights some of these advances including: improvements in pre-natal and early neonatal diagnosis, new retinal imaging techniques which have revolutionized disease management, and innovative approaches to conservative management which have led to significant improvement in ocular salvage. There are exciting developments on the horizon as the increasing knowledge of the molecular genetics of retinoblastoma translates into the identification of high-risk subtypes and potential clinical and prognostic stratification which will guide treatment choices.
扫码关注我们
求助内容:
应助结果提醒方式:
