title: Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
abstract: OBJECTIVE
  To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis, treatment and other clinical parameters.
  
  
  METHODS
  Ten children with LCHAD deficiency underwent repeated ophthalmological evaluations including ERG.
  
  
  RESULTS
  All 10 children developed chorioretinal pathology. Regardless of age at diagnosis, initiation of treatment and age at examination, inter-individual differences were present. Profound chorioretinal atrophy, severe visual impairment and progressive myopia had developed in two teenagers. Milder chorioretinopathy with or without subnormal visual acuity was present in all other children. ERG was pathological in seven children. The chorioretinopathy often started in the peripapillary or perimacular areas. In one patient, unilateral visual impairment was associated with fibrosis.
  
  
  CONCLUSIONS
  Early diagnosis and adequate therapy might delay but not prevent the progression of retinal complications. Late diagnosis with severe symptoms at diagnosis, neonatal hypoglycaemia and frequent decompensations may increase the progression rate of the chorioretinopathy. LCHAD deficiency, a potentially lethal disease, is sometimes difficult to diagnose. Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal hypoglycaemia or failure to thrive.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. kristina.fahnehjelm@ki.se
authors.forename: Kristina Teär
authors.initials: KT
authors.lastname: Fahnehjelm
authors.forename: Gerd
authors.initials: G
authors.lastname: Holmström
authors.forename: Liu
authors.initials: L
authors.lastname: Ying
authors.forename: Charlotte Bieneck
authors.initials: CB
authors.lastname: Haglind
authors.forename: Anna
authors.initials: A
authors.lastname: Nordenström
authors.forename: Maria
authors.initials: M
authors.lastname: Halldin
authors.forename: Jan
authors.initials: J
authors.lastname: Alm
authors.forename: Antal
authors.initials: A
authors.lastname: Nemeth
authors.forename: Ulrika
authors.initials: U
authors.lastname: von Döbeln
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D015862:Choroid Diseases / Q000209:etiology / Q000473:pathology; D003430:Cross-Sectional Studies; D018450:Disease Progression; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D009154:Mutation; D009216:Myopia / Q000209:etiology / Q000503:physiopathology; D012164:Retinal Diseases / Q000209:etiology / Q000473:pathology; D012720:Severity of Illness Index; D014786:Vision Disorders / Q000209:etiology / Q000503:physiopathology; D014792:Visual Acuity
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases