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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period

  • Clinical Case Report
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Abstract

Background

LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait. Affected patients can present with hypoglycaemia, rhabdomyolysis and cardiomyopathy. About half of the patients may suffer from retinopathy.

Case report

A 19-year-old girl was diagnosed as suffering from LCHAD deficiency with recurrent rhabdomyolysis episodes at the age of 7 months by an inaugural coma with hypoglycaemia and hepatomegaly. Appropriate dietary management with carnitine supplementation was initiated. Retinopathy was diagnosed at age two. Ophthalmological assessments including visual acuity, visual field, OCT, flash ERGs, P-ERG, flash VEPs and EOG recordings were conducted over a 17-year period.

Results

Visual acuity was decreased. Fundi showed a progressive retinopathy and chorioretinopathy. Photophobia was noticed 2 years before the decrease in photopic-ERG amplitude with normal scotopic-ERGs. Scotopic-ERG amplitude decreased 10 years after the decrease in photopic-ERG amplitude. No EOG light rise was observed. Flash VEPs remained normal. These results suggest that the cone system dysfunction occurs largely prior to the rod system dysfunction with a relative preservation of the macula function.

Comments

This dysfunction of cones prior to the dysfunction of rods was not reported previously. This could be related to mitochondrial energy failure in cones as cones are greater consumers of ATP than rods. This hypothesis needs to be further confirmed as other long-chain fatty oxidation defective patients (VLCAD and CPT2 deficiencies) do not exhibit retinopathy.

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Abbreviations

EOG:

Electro-oculogram

ERG:

Electroretinogram

LCHAD-D:

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase

LE:

Left eye

OCT:

Optical coherent tomography

P-ERG:

Pattern-electroretinogram

RE:

Right eye

RPE:

Retinal pigment epithelium

VEP:

Visual evoked potential

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Authors and Affiliations

  1. Service de Physiologie Clinique, Exploration Fonctionnelle, Hôpital Lariboisière, AP-HP, Paris, France

    Florence Rigaudière, Jean-François Le Gargasson & Paolo Milani

  2. Faculté de Médecine Paris-Diderot, Université de Paris, Paris, France

    Florence Rigaudière, Jean-François Le Gargasson & Hélène Ogier de Baulny

  3. Service d’Ophtalmologie, Hôpital Robert Debré, AP-HP, Paris, France

    Eliane Delouvrier

  4. Reference Center for Inborn Errors of Metabolism, Robert Debré Hospital, AP-HP, Paris, France

    Hélène Ogier de Baulny & Manuel Schiff

  5. Reference Center for Inborn Errors of Metabolism, Faculté de Médecine Paris-Descartes, Necker University Hospital, AP-HP, Université de Paris, Paris, France

    Manuel Schiff

  6. Institut Imagine, Inserm UMRS_1163, Paris, France

    Manuel Schiff

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  1. Florence Rigaudière
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  2. Eliane Delouvrier
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Correspondence to Florence Rigaudière.

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The patient has consented to the submission of the case report for submission to the journal.

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Patient’s human rights and her well-being were respected throughout the clinical assessments and electrophysiological recordings over the all assessment period.

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Rigaudière, F., Delouvrier, E., Le Gargasson, JF. et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period. Doc Ophthalmol 142, 371–380 (2021). https://doi.org/10.1007/s10633-020-09802-y

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  • DOI: https://doi.org/10.1007/s10633-020-09802-y

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