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Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function
Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.;St Erik Eye Hosp, Stockholm, Sweden.;Univ Gothenburg, Sahlgrenska Akad, Inst Neurosci & Physiol, Gothenburg, Sweden..
Karolinska Univ Hosp, Dept Clin Neurophysiol, Huddinge, Sweden.;Soder Sjukhuset, Dept Ophthalmol, Stockholm, Sweden..
Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Paediat, Stockholm, Sweden..
Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.;St Erik Eye Hosp, Stockholm, Sweden..
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2016 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 105, no 12, 1451-1460 p.Article in journal (Refereed) Published
Abstract [en]

Aim: 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. Conclusion: 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.

Place, publisher, year, edition, pages
2016. Vol. 105, no 12, 1451-1460 p.
Keyword [en]
Chorioretinal atrophy, Electroretinography, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
National Category
Pediatrics
Identifiers
URN: urn:nbn:se:uu:diva-312045DOI: 10.1111/apa.13536ISI: 000387793000030PubMedID: 27461099OAI: oai:DiVA.org:uu-312045DiVA: diva2:1062359
Available from: 2017-01-05 Created: 2017-01-04 Last updated: 2017-01-05Bibliographically approved

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