关键词： Anterior segment dysgenesis Atrophic chorioretinal lesions B3GLCT mutation Peters anomaly Peters plus syndrome

Mesh ： Anterior Eye Segment / abnormalities Choroid Diseases / diagnosis genetics Cleft Lip / diagnosis genetics Cornea / abnormalities Eye Abnormalities / diagnosis genetics Fluorescein Angiography Galactosyltransferases / genetics Glucosyltransferases / genetics Growth Disorders / diagnosis genetics Humans Infant Limb Deformities, Congenital / diagnosis genetics Male Mutation / genetics Retinal Diseases / diagnosis genetics Tomography, Optical Coherence

来  源：   DOI：10.1186/s12886-020-01380-6   PDF(Sci-hub)   PDF(Pubmed)

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.
METHODS: 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.
摘要：
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