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

Anna Schweigert; Raymond G. Areaux

doi:10.1016/j.jaapos.2019.08.272

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

Anna Schweigert, Raymond G. Areaux

Ophthalmology & Visual Neurosciences

Research output: Contribution to journal › Article › peer-review

3 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 language	English (US)
Pages (from-to)	351-352
Number of pages	2
Journal	Journal of AAPOS
Volume	23
Issue number	6
DOIs	https://doi.org/10.1016/j.jaapos.2019.08.272
State	Published - 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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title = "Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8",

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.",

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

Abstract

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