Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are com...

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Bibliographic Details
Published in:Ophthalmic genetics 2019-11, Vol.40 (6), p.549-552
Main Authors: Esfandiari, Hamed, Mets, Marilyn B, Kim, Katherine H, Kurup, Sudhi P
Format: Article
Language:English
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Summary:: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature. : Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12. : In addition to typical systemic findings of CDG, our case was found to have exotropia, bilateralcataracts, and retinitis pigmentosa with extinguished electroretinography in photopic and scotopic conditions. : We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810.2019.1692361