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Pediatric genetic ocular tumors

机译:小儿遗传性眼肿瘤

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摘要

Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular tumors both for visual prognosis and also for systemic implications. The phakomatosis comprise of multitude of benign tumors that are aysmptomatic but their detection can aid in the diagnosis of the syndrome. Retinoblastoma is the most common malignant intraocular tumor in childhood and with current treatment modalities, the survival is more than 95%. It is transmitted as an autosomal dominant fashion and hence the offsprings of all patients with the germline retinoblastoma need to be screened from birth. This review discusses the various pediatric genetic ocular tumors discussing the clinical manifestation, diagnosis and treatment.
机译:小儿遗传性眼肿瘤包括恶性肿瘤,如视网膜母细胞瘤和眼病,如神经纤维瘤病,结节性硬化症,von Hippel-Lindau综合征和空洞性基底细胞癌综合征。筛查眼部肿瘤对于视觉预后和全身意义都很重要。晶状体病包括许多无症状的良性肿瘤,但对其进行检测可以帮助诊断该综合征。视网膜母细胞瘤是儿童期最常见的恶性眼内肿瘤,采用目前的治疗方式,存活率超过95%。它以常染色体显性遗传方式传播,因此需要对所有患有生殖细胞成视网膜细胞瘤的患者的后代进行筛查。这篇综述讨论了各种小儿遗传性眼肿瘤的临床表现,诊断和治疗。

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