AI Article Synopsis
- CDG-I consists of a group of genetic disorders resulting from problems in glycoprotein production, and they are inherited in an autosomal recessive manner.
- Some ocular issues have been noted in CDG-I patients, but specific ocular conditions related to ALG12-CDG, a rare subtype, are less documented.
- This report discusses a case of a 17-year-old woman with ALG12-CDG who was diagnosed with Duane syndrome, a type of congenital strabismus.
Article Abstract
Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.
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| http://dx.doi.org/10.1016/j.jaapos.2024.103954 | DOI Listing |
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