Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8

Anna Schweigert, Raymond G. Areaux

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)351-352
Number of pages2
JournalJournal of AAPOS
Volume23
Issue number6
DOIs
StatePublished - Dec 2019

Bibliographical note

Funding 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.

Publisher Copyright:
© 2019 American Association for Pediatric Ophthalmology and Strabismus

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