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

Kristina Teär Fahnehjelm1,2,3, Ying Liu4,5, David Olsson6,7

  • 1Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Acta Paediatrica (Oslo, Norway : 1992)
|July 28, 2016
PubMed
Summary

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) often causes vision problems. Regular eye exams and electroretinography are crucial for monitoring retinal function in LCHADD patients.

Keywords:
Chorioretinal atrophyElectroretinographyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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Area of Science:

  • Ophthalmology
  • Metabolic Disorders
  • Genetics

Background:

  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder.
  • Limited research exists on the long-term ocular manifestations of LCHADD.

Purpose of the Study:

  • To investigate long-term electroretinographic (ERG) findings in LCHADD patients.
  • To correlate ERG results with patient age, metabolic control, and clinical symptoms.

Main Methods:

  • 12 Swedish LCHADD patients underwent visual acuity testing, fundus examination, optical coherence tomography (OCT), and ERG.
  • Results were correlated with age, acylcarnitine levels, and metabolic control.

Main Results:

  • Over 80% of patients showed pathological or subnormal retinal function on ERG.
  • Retinal abnormalities included pigmentation, atrophy, and thinning; 2 patients had significant vision impairment.
  • Poorer outcomes were linked to neonatal symptoms and suboptimal metabolic control; function declined with age.

Conclusions:

  • LCHADD frequently leads to progressive retinal dysfunction.
  • Strict dietary management and regular ophthalmological monitoring, including ERG, are recommended for LCHADD patients.