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.
- Congenital disorders of glycosylation
- carbohydrate-deficient glycoprotein syndrome
- facial dysmorphism
- ocular abnormalities
- retinitis pigmentosa
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health