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Text
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<a href="http://doi.org/10.1111/j.1600-0420.2007.01121.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1600-0420.2007.01121.x</a>
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Title
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Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up
Publisher
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Acta Ophthalmologica
Date
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2008
Subject
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Child; Cross-Sectional Studies; Female; Humans; Male; Follow-Up Studies; Disease Progression; Mutation; Severity of Illness Index; Preschool; infant; Q3 Literature Search; Atrophy; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Metabolism; Visual Acuity; Choroid Diseases/etiology/pathology; Electroretinography; Eye Diseases/diagnosis/etiology/physiopathology; Hypoglycemia/complications; Inborn Errors/complications/genetics; Myopia/etiology/physiopathology; Retinal Diseases/etiology/pathology; Vision Disorders/etiology/physiopathology
Creator
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Fahnehjelm KT; Holmstrom G; Ying L; Haglind CB; Nordenstrom A; Halldin M; Alm J; Nemeth A; von Dobeln U
Description
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PURPOSE: 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. CONCLUSION: 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.
2008
Identifier
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<a href="http://doi.org/10.1111/j.1600-0420.2007.01121.x" target="_blank" rel="noreferrer">10.1111/j.1600-0420.2007.01121.x</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2008
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Acta Ophthalmologica
Alm J
Atrophy
Backlog
Child
Choroid Diseases/etiology/pathology
Cross-sectional Studies
Disease Progression
Electroretinography
Eye Diseases/diagnosis/etiology/physiopathology
Fahnehjelm KT
Female
Follow-up Studies
Haglind CB
Halldin M
Holmstrom G
Humans
Hypoglycemia/complications
Inborn Errors/complications/genetics
Infant
Journal Article
Male
Metabolism
Mutation
Myopia/etiology/physiopathology
Nemeth A
Nordenstrom A
Preschool
Q3 Scoping Review Results
Retinal Diseases/etiology/pathology
Severity Of Illness Index
Vision Disorders/etiology/physiopathology
Visual Acuity
von Dobeln U
Ying L