Peters-Plus Syndrome: What Outcome in the Absence of Genetic Confirmation? A Case Report

Abstract

Anterior segment dysgenesis is a group of non-acquired ocular anomalies whose cause is multifactorial; many genes are involved. It is characterized by developmental anomalies of the tissues of the anterior segment, of which Peters-Plus syndrome is included. Our aim is to describe the different ophthalmological and systemic aspects of Peters-Plus syndrome in order to improve the quality of diagnosis of this syndrome even in the absence of genetic confirmation, especially in low-income countries or when genetic studies are not available. In this observation, we report the case of a newborn with Peters-Plus syndrome admitted to the neonatology unit. The diagnosis was made on the basis of clinical-radiological criteria, and treatment consisted of caring for the baby and the parents, given the particular psychological context often associated with the birth of a baby with polymalformative syndrome. From this study, Peters-Plus syndrome should be borne in mind in a fetus with typical ocular anomalies, unusual facial appearance and long tubular bone insufficiency, especially in the presence of a positive family history. In such cases, prenatal diagnosis could be an option for the couples. A genetic study should be undertaken to confirm the clinical diagnosis and provide appropriate genetic counseling and prenatal diagnostic options.