Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report
A Llorca-Cardeñosa1, J Català-Mora2, A García-Cazorla3
1Máster en Oftalmología Pediátrica, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.
Archivos De La Sociedad Espanola De Oftalmologia
|February 21, 2016
Summary
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can cause eye abnormalities, including chorioretinal atrophy and retinal pigment epithelium changes. Despite these findings, visual acuity and electroretinography remained normal in a five-year-old patient.
Area of Science:
- Ophthalmology
- Metabolic Disorders
- Genetics
Background:
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited metabolic disorder.
- LCHADD affects fatty acid metabolism, leading to potential systemic complications.
Observation:
- A five-year-old patient with diagnosed LCHADD presented for ophthalmological evaluation.
- The patient had a history of metabolic crises and rhabdomyolysis.
- Fundoscopic examination revealed peripapillary chorioretinal atrophy and granular retinal pigment epithelium.
Findings:
- Despite ocular abnormalities, the patient maintained normal visual acuity (6/6 in both eyes).
- Electroretinography results were within normal limits, indicating preserved retinal function.
- Ocular findings in LCHADD may not always correlate with functional visual impairment.
Implications:
- This case highlights the importance of ophthalmological assessment in patients with LCHADD.
- Understanding the spectrum of ocular manifestations in LCHADD can aid in early diagnosis and management.
- Further research is needed to elucidate the pathophysiology of ocular changes in this metabolic disorder.
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