Article
Ocular Phenotype of Peters-Plus Syndrome.
Cornea - 1 Feb 2022
Shah Parth R, Chauhan Bharesh, Chu Charleen T, Kofler Julia, Nischal Ken K
Abstract excerpt
PURPOSE: Peters-plus syndrome is a rare, autosomal recessive congenital disorder of glycosylation caused by mutations in the gene B3GLCT. A detailed description of the ocular findings is currently lacking in the scientific literature. We report a case series of Peters-plus syndrome with deep ocular phenotyping using anterior segment optical coherence tomography and ultrasound biomicroscopy. Where available, we...
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