Dr Soma Rani Roy, Resident Surgeon, Chittagong Eye Infirmary and Training Complex, Bangladesh; E-mail:
Mymensingh Med J. 2021 Jul;30(3):881-895.
Retinoblastoma is the most common primary intraocular tumor with an incidence of 1: 16,000 to 18,000 live birth and represents 11% of cancer that develop in the first year of life. Retinoblastoma may be unilateral (60%) or bilateral (40%). Bilateral cases always heritable and median age of diagnosis is 1 year. Unilateral cases are mostly non heritable but 15% can be heritable and median age of presentation is 2 years. All children with heritable form carry mutation in RB1 gene. Though most frequent symptoms during diagnosis are leucocoria and strabismus, can present as most severe form in under developed countries. Diagnosis is made by fundus examination. Ultrasonography and imaging (CT, MRI) contribute both in diagnosis and assessment of extension of diseases. The aim of treatment is to save the child first, followed by globe and vision salvage. Treatment depends on laterality, size, location and extent of tumor. The main prognosis depends on early detection of tumor and treating the child by multidisciplinary team approach. Due to advancement in treatment modalities for the last two decade the survival rate of retinoblastoma has increased. But long term follow up is mandatory for retinoblastoma survivor as there is risk for development of second cancers in later life. Proper genetic screening and genetic counseling can help parents and patients in their adulthood to understand the disease properly.
视网膜母细胞瘤是最常见的眼内原发性肿瘤，发病率为每 16000 至 18000 例活产，占儿童期第一年发生癌症的 11%。视网膜母细胞瘤可单侧（60%）或双侧（40%）发病。双侧病例总是遗传性的，诊断的中位年龄为 1 岁。单侧病例多为非遗传性的，但 15%可能为遗传性的，就诊的中位年龄为 2 岁。所有遗传性形式的患儿均携带 RB1 基因突变。虽然诊断时最常见的症状是白瞳症和斜视，但在欠发达国家可能表现为最严重的形式。诊断通过眼底检查。超声检查和影像学（CT、MRI）有助于诊断和评估疾病的扩展。治疗的目的是首先挽救患儿的生命，其次是挽救眼球和视力。治疗取决于肿瘤的侧别、大小、位置和范围。主要预后取决于肿瘤的早期发现和多学科团队的治疗。由于过去二十年治疗方法的进步，视网膜母细胞瘤的生存率有所提高。但对于视网膜母细胞瘤幸存者，必须进行长期随访，因为他们在以后的生活中存在发展为第二癌症的风险。适当的遗传筛查和遗传咨询可以帮助患儿及其成年后的父母正确了解疾病。
