Minor congenital ocular anomalies as somatic markers in genetic disorders

Abstract

Introduction. Minor congenital ocular anomalies (MCOA) are important markers for the detection of certain genetic disorders. Even within the same disease, they can vary in their position, numbers or expression intensity. Early detection and diagnosis of genetic disorders are essential to find them and to interpret them correctly and quickly. Aim. The purpose of this study was to analyse MCOA in genetic diseases, to identify the main types of MCOA as well as to analyze associated genetic disorders. Material and methods. This is a prospective study of 118 cases presenting with genetic disorders that also presented with MCOA. Its duration was from February 2015 to February 2019. Detailed ocular and adnexa examinations were performed. Results. Of 118 patients who were enrolled in this study, 84 (71%) had minor ocular anomalies with or without associated major anomalies. Most common MCOA were identified in the eyelid, iris and retina. Down syndrome was the most frequent syndrome associated with MCOA. Conclusions. Minor congenital ocular abnormalities, even if they are not serious, are often suggestive of certain genetic syndromes. Regardless of the genetic disorders, anatomically, the eyelid is the ocular adnexa that always gives us minor clues of important diagnosis significance.

Keywords

• ocular anomalies
• markers
• genetic disorders