Retinoblastoma
摘要
Retinoblastoma (RB) is the commonest intraocular malignancy in children, with the incidence of 1:15,000 to 1:18,000 children [1]. The average age of diagnosis is 18 months, and it present bilaterally in about 25 to 35% of cases without any gender or racial predisposition [2]. It is caused by mutation in a tumor suppressor gene, RB1 gene which is located at chromosome 13q14.2n. Both copies are required to lost or mutated for development of retinoblastoma. Knudson proposed the two-hit hypothesis in 1971 and stated that mutations in both copies of RB1 gene are required for the development of retinoblastoma [3]. Only 6% of the newly diagnosed RB cases are familial, while the rest are sporadic [2]. High-income countries have better outcome of RB, 95% survival rate, as compared to developing countries or low−/middle-income countries (LMIC) [4]. Causes of high mortality in developing countries are delayed presentation, late diagnosis, unaffordable treatment facilities, cultural taboo for enucleation, and poor compliance to treatment and treatment abandonment [5].