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

Hamed Esfandiari, Marilyn B. Mets, Katherine H. Kim, Sudhi P. Kurup*

*Corresponding author for this work

Research output: Contribution to journalArticle

Abstract

Background: 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. Materials and Methods: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12. Results: 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. Conclusions: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.

Original languageEnglish (US)
Pages (from-to)549-552
Number of pages4
JournalOphthalmic Genetics
Volume40
Issue number6
DOIs
StatePublished - Nov 2 2019

Keywords

  • CDG-Ig
  • Congenital disorders of glycosylation
  • carbohydrate-deficient glycoprotein syndrome
  • cataract
  • facial dysmorphism
  • ocular abnormalities
  • retinitis pigmentosa

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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