Article
Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
BMC ophthalmology - 23 Mar 2020
Wang Ye Elaine, Ramirez Dhariana Acon, Chang Ta Chen, Berrocal Audina
Abstract excerpt
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...
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