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

Ye Elaine Wang, Dhariana Acon Ramirez, Ta Chen Chang, Audina Berrocal

BMC ophthalmology 2020 Mar 23

filter terms:

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. 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. Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.

Citation

Ye Elaine Wang, Dhariana Acon Ramirez, Ta Chen Chang, Audina Berrocal. Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. BMC ophthalmology. 2020 Mar 23;20(1):118