Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique

Digit J Ophthalmol. 2019 Nov 17;25(4):59-64. doi: 10.5693/djo.02.2019.09.001. eCollection 2019 Apr.

Abstract

A 4-year-old girl with a history of Pearson marrow-pancreas syndrome presenting with severe, progressive photophobia was found to have bilateral, diffuse corneal thickening and peripheral pigmentary retinopathy. She underwent Descemet stripping automated endothelial keratoplasty (DSAEK) surgery in both eyes using a modified suture pull-through technique. Postoperatively there was no evidence of cataract formation or graft detachment; her corneas thinned, and her photophobia improved dramatically.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency
  • Child, Preschool
  • Congenital Bone Marrow Failure Syndromes
  • Corneal Diseases / complications
  • Corneal Diseases / physiopathology
  • Corneal Diseases / surgery*
  • Corneal Pachymetry / methods
  • Descemet Stripping Endothelial Keratoplasty / methods*
  • Endothelium, Corneal / pathology
  • Endothelium, Corneal / physiopathology*
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors
  • Mitochondrial Diseases
  • Muscular Diseases
  • Photophobia / etiology
  • Photophobia / physiopathology
  • Photophobia / surgery*
  • Suture Techniques / instrumentation*
  • Sutures*
  • Visual Acuity*

Substances

  • Acyl-CoA Dehydrogenase, Long-Chain

Supplementary concepts

  • VLCAD deficiency