A rare form of congenital disorder of glycosylation (CDG) was recently discovered in individuals with biallelic mutations in fucosyltransferase 8 (FUT8). The clinical characteristics of patients with FUT8-CDG include intrauterine growth retardation, feeding difficulties, hypotonia, microcephaly, seizures, short stature, developmental delay, and respiratory abnormalities. We report the first case of glaucoma in an infant with FUT8-CGD and hypothesize a pathogenesis for glaucoma.
|Original language||English (US)|
|Number of pages||2|
|Journal||Journal of AAPOS|
|State||Published - Dec 2019|
Bibliographical noteFunding Information:
Supported in part by an unrestricted grant from Research to Prevent Blindness Inc, New York, NY, to the Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis.
© 2019 American Association for Pediatric Ophthalmology and Strabismus