Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management

Justin D. Etzel, Kimberly Neely, Amanda Ely

Research output: Contribution to journalArticle

Abstract

We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.

Original languageEnglish (US)
JournalJournal of AAPOS
DOIs
StatePublished - Jan 1 2019

Fingerprint

Congenital Disorders of Glycosylation
Cataract
Pediatrics
Pathology
Optic Atrophy
Mutation
Amblyopia
Glaucoma
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Cite this

@article{b42a5c0ce93a43b19add3262c20a942d,
title = "Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management",
abstract = "We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.",
author = "Etzel, {Justin D.} and Kimberly Neely and Amanda Ely",
year = "2019",
month = "1",
day = "1",
doi = "10.1016/j.jaapos.2019.05.004",
language = "English (US)",
journal = "Journal of AAPOS",
issn = "1091-8531",
publisher = "Mosby Inc.",

}

TY - JOUR

T1 - Congenital glycosylation disorder

T2 - a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management

AU - Etzel, Justin D.

AU - Neely, Kimberly

AU - Ely, Amanda

PY - 2019/1/1

Y1 - 2019/1/1

N2 - We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.

AB - We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.

UR - http://www.scopus.com/inward/record.url?scp=85067980466&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85067980466&partnerID=8YFLogxK

U2 - 10.1016/j.jaapos.2019.05.004

DO - 10.1016/j.jaapos.2019.05.004

M3 - Article

C2 - 31153949

AN - SCOPUS:85067980466

JO - Journal of AAPOS

JF - Journal of AAPOS

SN - 1091-8531

ER -