Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction and Pearson Syndrome

J Pediatr Ophthalmol Strabismus. 2019 Oct 17:56:e60-e64. doi: 10.3928/01913913-20190813-01.

Abstract

Retinopathy of prematurity (ROP) is a biphasic disease in which the first phase is characterized by high oxygen tension leading to vaso-obliteration in the retina. Pearson syndrome is a rare multisystem mitochondrial disease with a defect in cellular respiration. The authors describe a patient with Pearson syndrome and delayed onset of ROP at a postconceptual age of 42 weeks. The proposed mechanistic theory was the increased oxygen use associated with the metabolic impairments in Pearson syndrome counterbalancing the effects of supplemental oxygen during the vaso-obliterative stage of ROP. [J Pediatr Ophthalmol Strabismus. 2019;56:e60-e64.].

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Acyl-CoA Dehydrogenase, Long-Chain / metabolism
  • Congenital Bone Marrow Failure Syndromes / diagnosis*
  • Congenital Bone Marrow Failure Syndromes / metabolism
  • Disease Progression
  • Female
  • Fluorescein Angiography / methods
  • Follow-Up Studies
  • Fundus Oculi
  • Gestational Age
  • Humans
  • Infant, Low Birth Weight*
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / metabolism
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / metabolism
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / metabolism
  • Oxygen / metabolism*
  • Retinopathy of Prematurity / diagnosis*
  • Retinopathy of Prematurity / metabolism
  • Time Factors

Substances

  • Acyl-CoA Dehydrogenase, Long-Chain
  • Oxygen

Supplementary concepts

  • VLCAD deficiency