Abstract
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.
Keywords
Tumors - genetic - retinoblastoma - tuberous sclerosis - von Hippel-Lindau syndrome
- neurofibromatosis - Gardner syndrome - Gorlin-Gotz syndrome - optic nerve glioma
