{Reference Type}: Case Reports
{Title}: Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).
{Author}: Li J;Kolin DA;Nallasamy S;Kolin T;
{Journal}: J AAPOS
{Volume}: 28
{Issue}: 4
{Year}: 2024 Aug 13
{Factor}: 1.325
{DOI}: 10.1016/j.jaapos.2024.103954
{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.