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

J AAPOS. 2019 Oct;23(5):297-300. doi: 10.1016/j.jaapos.2019.05.004. Epub 2019 May 30.

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.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Cataract / diagnosis
  • Cataract / genetics*
  • Cataract Extraction
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Exome Sequencing
  • Fatal Outcome
  • Fovea Centralis / abnormalities*
  • Humans
  • Infant, Newborn
  • Male
  • Multiple Organ Failure / diagnosis
  • Mutation*
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / genetics*
  • N-Acetylglucosaminyltransferases / genetics*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Retinal Pigment Epithelium / pathology*

Substances

  • N-Acetylglucosaminyltransferases
  • dolichyl-phosphate alpha-N-acetylglucosaminyltransferase