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BMC Ophthalmology

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Open Access 01-12-2020 | Case report

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

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

Published in: BMC Ophthalmology | Issue 1/2020

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.

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Title: Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report
Authors: Ye Elaine Wang
Dhariana Acon Ramirez
Ta Chen Chang
Audina Berrocal
Publication date: 01-12-2020
Publisher: BioMed Central
Published in: BMC Ophthalmology / Issue 1/2020
Electronic ISSN: 1471-2415
DOI: https://doi.org/10.1186/s12886-020-01380-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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