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Abstract #82553 Published in IGR 20-4
Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8
Schweigert A; Areaux RG; Areaux RG; Areaux RGJournal of AAPOS 2019; 23: 351-352
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.
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis. Electronic address: aschweig10@umphysicians.umn.edu.
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
