Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function

Acta Paediatr. 2016 Dec;105(12):1451-1460. doi: 10.1111/apa.13536. Epub 2016 Sep 15.


Aim: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This study correlated long-term electroretinographic findings with age, metabolic control and clinical symptoms.

Methods: We examined 12 Swedish patients with LCHADD. Visual acuity testing, fundus examinations, optical coherence tomography and electroretinography were performed. The results were correlated to age, the levels of 3-hydroxyacylcarnitine and acylcarnitine and clinical metabolic control.

Results: Blindness or moderate visual impairment was found in two patients. Retinal pigmentation, atrophy and fibrosis were present in 11, seven and one of the patients, respectively, and optical coherence tomography showed retinal thinning in three of the six patients examined. Electroretinography was performed on 11 of the 12 patients. It was pathological, with reduced rod and cone responses, in five patients, subnormal in four and was related to poor clinical metabolic control and severe neonatal symptoms. Repeated electroretinographies revealed reduced function with increasing age.

Conclusion: More than 80% of the LCHADD patients developed pathological or subnormal retinal function. This was more pronounced in patients with neonatal symptoms, but ameliorated by strict dietary treatment. Annual ophthalmological follow-ups, with electroretinography every second or third year, are recommended.

Keywords: Chorioretinal atrophy; Electroretinography; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathies / complications*
  • Cardiomyopathies / diet therapy
  • Cardiomyopathies / physiopathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Electroretinography*
  • Humans
  • Lipid Metabolism, Inborn Errors / complications*
  • Lipid Metabolism, Inborn Errors / diet therapy
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Male
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / diet therapy
  • Mitochondrial Myopathies / physiopathology
  • Mitochondrial Trifunctional Protein / deficiency*
  • Nervous System Diseases / complications*
  • Nervous System Diseases / diet therapy
  • Nervous System Diseases / physiopathology
  • Retinal Diseases / diagnosis
  • Retinal Diseases / etiology*
  • Rhabdomyolysis / complications*
  • Rhabdomyolysis / diet therapy
  • Rhabdomyolysis / physiopathology
  • Young Adult


  • Mitochondrial Trifunctional Protein

Supplementary concepts

  • Trifunctional Protein Deficiency With Myopathy And Neuropathy