Ocular Findings in Trisomy 13: Nasolacrimal Duct Stenosis Case Series

Abstract

Trisomy 13, also known as Patau Syndrome, is a congenital malformation that leads to several ocular anomalies, of which cataracts are the most common, as well as iris and retinal colobomas, persistent hyperplastic primary vitreous, persistent tunica vasculosa lentis, and microphthalmos. While most do not survive beyond the neonatal period, those that do survive past one year of age have an 84% chance of making it to age 5. Therefore, treatments for ocular problems should be used to improve the quality of life if the child can withstand surgery. The literature on this topic has described histopathologic findings in postmortem eyes. This case series supports those observations and presents a new discovery of nasolacrimal duct obstructions or stenosis. Deciding on surgical intervention in cases with Trisomy 13 can be challenging, and a variety of factors must be taken into account before surgery is considered. Treatment of these cases can be difficult, necessitating deliberate consideration and determination on a case-by-case basis; however, this case series gives additional evidence to help guide these decisions. Traditionally, trisomy 13 was regarded as being lethal, multiple organ malformations and severe intellectual disability.