Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature.<b>Materials and Methods</b>: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12.<b>Results</b>: 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.<b>Conclusions</b>: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.
The skeletal features overlap with that previously reported for ALG3- and ALG12-CDG, suggesting that this subset of glycosylation disorders constitutes a new diagnostic group of skeletal dysplasias.