Hamed Esfandiari1,2, Marilyn B Mets1,2, Katherine H Kim3,4, Sudhi P Kurup1,2. 1. Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. 2. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. 3. Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. 4. Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
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.
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.
Authors: Jana Ziburová; Marek Nemčovič; Sergej Šesták; Jana Bellová; Zuzana Pakanová; Barbara Siváková; Anna Šalingová; Claudia Šebová; Mária Ostrožlíková; Dimitra-Evanthia Lekka; Jana Brucknerová; Ingrid Brucknerová; Martina Skokňová; Alexandra Mc Cullough; Gabriela Hrčková; Anna Hlavatá; Vladimír Bzdúch; Ján Mucha; Peter Baráth Journal: Am J Med Genet A Date: 2021-09-01 Impact factor: 2.578