title: Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|St Erik Eye Hospital, Stockholm, Sweden.|Institute of Neuroscience and Physiology, Sahlgrenska Akademin, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Kristina Teär
authors.initials: KT
authors.lastname: Fahnehjelm
authors.affiliation: Department of Clinical Neurophysiology, Karolinska University Hospital, Huddinge, Sweden.|Department of Ophthalmology, The South Hospital, Stockholm, Sweden.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.|Department of Paediatrics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: David
authors.initials: D
authors.lastname: Olsson
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|St Erik Eye Hospital, Stockholm, Sweden.
authors.forename: Urban
authors.initials: U
authors.lastname: Amrén
authors.affiliation: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.|Department of Paediatrics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Charlotte Bieneck
authors.initials: CB
authors.lastname: Haglind
authors.affiliation: Department of Neuroscience/ophthalmology, Uppsala University Hospital, Uppsala, Sweden.
authors.forename: Gerd
authors.initials: G
authors.lastname: Holmström
authors.affiliation: Department of Paediatric endocrinology, Uppsala University Children's Hospital, Uppsala, Sweden.
authors.forename: Maria
authors.initials: M
authors.lastname: Halldin
authors.affiliation: Department of Ophthalmology, University of Lund, Lund, Sweden.
authors.forename: Sten
authors.initials: S
authors.lastname: Andreasson
authors.affiliation: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.|Department of Paediatrics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Nordenström
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000150:complications* / Q000178:diet therapy / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004596:Electroretinography; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy / Q000503:physiopathology; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000178:diet therapy / Q000503:physiopathology; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency*; D009422:Nervous System Diseases / Q000150:complications* / Q000178:diet therapy / Q000503:physiopathology; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*; D012206:Rhabdomyolysis / Q000150:complications* / Q000178:diet therapy / Q000503:physiopathology; D055815:Young Adult
chemical_list: D063991:Mitochondrial Trifunctional Protein
keywords: Chorioretinal atrophy; Electroretinography; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency