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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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)
Pages (from-to)297-300
Number of pages4
JournalJournal of AAPOS
Volume23
Issue number5
DOIs
StatePublished - Oct 2019

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Fingerprint

Dive into the research topics of 'Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management'. Together they form a unique fingerprint.

Cite this