Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature

Arch Soc Esp Oftalmol (Engl Ed). 2021 Sep;96(9):496-499. doi: 10.1016/j.oftale.2020.07.013. Epub 2020 Nov 28.


Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration in the metabolic pathway of fatty acids. Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case. The case is presented of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficit detected in neonatal screening, and which clinically debuted as pigmentary retinosis with no alteration in visual acuity as observed in the fundus images and optical coherence tomography of the retina provided. Finally, a review of the literature of this potentially lethal pathology is presented, and the main pathological and clinical features are highlighted.

Keywords: 3-hidroxiacil CoA-deshidrogenasa de cadena larga; Beta-oxidation; Betaoxidación; Cribado neonatal; Long-chain 3-hydroxyacyl-CoA dehydrogenase; Newborn screening; Retinitis pigmentosa; Retinosis pigmentaria.

Publication types

  • Case Reports
  • Review

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases
  • Cardiomyopathies
  • Child
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors
  • Mitochondrial Myopathies*
  • Mitochondrial Trifunctional Protein / deficiency
  • Nervous System Diseases*
  • Retinitis Pigmentosa* / diagnosis
  • Rhabdomyolysis


  • 3-Hydroxyacyl CoA Dehydrogenases
  • Mitochondrial Trifunctional Protein

Supplementary concepts

  • Trifunctional Protein Deficiency With Myopathy And Neuropathy