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Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report
Ye Elaine Wang1,2, Dhariana Acon Ramirez1, Ta Chen Chang1
1Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA.
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.
