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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number118
JournalBMC ophthalmology
Volume20
Issue number1
DOIs
StatePublished - Mar 23 2020

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

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