Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Autor: Li J; Keck School of Medicine, University of Southern California, Los Angeles, California., Kolin DA; Department of Orthopedic Surgery, Hospital for Special Surgery, New York, New York., Nallasamy S; The Vision Center at Children's Hospital Los Angeles, Los Angeles, California; USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California., Kolin T; The Vision Center at Children's Hospital Los Angeles, Los Angeles, California; USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California; Veterans Affairs Los Angeles Ambulatory Care Center, Los Angeles, California. Electronic address: tkolin@chla.usc.edu.
Jazyk: angličtina
Zdroj: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2024 Aug; Vol. 28 (4), pp. 103954. Date of Electronic Publication: 2024 Jun 13.
DOI: 10.1016/j.jaapos.2024.103954
Abstrakt: 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.
(Published by Elsevier Inc.)
Databáze: MEDLINE
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