Ophthalmological Findings in 6p Deletion Syndrome

Abstract

Patients with a deletion at the terminal end of chromosome 6p can present with a variety of ophthalmological and systemic malformations. In this paper we present two patients with this chromosomal anomaly and similar anterior eye-segment abnormalities. We also give an overview of the literature on the ophthalmological findings in 6p deletion syndrome and compare our patients to those previously described in the literature. This syndrome should be considered in patients presenting with anterior segment dysgenesis and systemic abnormalities.

Keywords: 6p deletion; Axenfeld-rieger spectrum; pediatric ophthalmology.