J Pediatr Genet 2014; 03(04): 259-269
DOI: 10.3233/PGE-14107
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Pediatric genetic ocular tumors

Behnaz Rouhani
a   Department of Ophthalmology, Drexel University, Philadelphia, PA, USA
,
Aparna Ramasubramanian
b   Moran Eye Center, University of Utah, Salt Lake City, UT, USA
› Author Affiliations

Subject Editor:
Further Information

Publication History

09 September 2014

12 October 2014

Publication Date:
27 July 2015 (online)

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.