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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)-Associated Ocular Pathology-A Narrative Review.

Magdalena Hubert1, Maciej Gawęcki1,2

  • 1Department of Ophthalmology, Pomeranian Hospitals, 84-200 Wejherowo, Poland.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) causes severe vision loss due to chorioretinopathy. Early detection and dietary therapy are crucial for managing this rare genetic disorder.

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chorioretinopathylong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencymacular neovascularizationmyopia

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Metabolic Disorders

Background:

  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare autosomal recessive metabolic disorder.
  • Ocular manifestations of LCHADD are severe and can lead to vision loss.

Purpose of the Study:

  • To review and classify the ocular findings in LCHADD.
  • To synthesize current evidence on LCHADD-associated visual impairment.

Main Methods:

  • Systematic PubMed search for studies on LCHADD ocular findings.
  • Inclusion of studies published within 20 years reporting at least six cases.
  • Categorization of findings into chorioretinopathy, macular neovascularization, and therapy effects.

Main Results:

  • Chorioretinopathy is the primary ocular feature of LCHADD.
  • Macular neovascularization (MNV) affects ~20% of eyes; progressive myopia is common.
  • Age correlates with chorioretinopathy severity; visual decline occurs despite metabolic control.

Conclusions:

  • LCHADD is a vision-threatening disorder with characteristic chorioretinopathy.
  • Newborn screening and prompt dietary intervention are vital.
  • Regular ophthalmic monitoring is essential for LCHADD patients.