Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report

Abstract

Abstract Background Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement. Case presentation In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography. Conclusions Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.

Keywords

• Peters plus syndrome
• Peters anomaly
• B3GLCT mutation
• Anterior segment dysgenesis
• Atrophic chorioretinal lesions