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Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function

Fahnehjelm, Kristina Teär; Liu, Ying LU ; Olsson, David; Amrén, Urban; Haglind, Charlotte Bieneck; Holmström, Gerd; Halldin, Maria; Andreasson, Sten LU and Nordenström, Anna (2016) In Acta Paediatrica, International Journal of Paediatrics
Abstract

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,... (More)

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.

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author
organization
publishing date
type
Contribution to journal
publication status
in press
subject
keywords
Chorioretinal atrophy, Electroretinography, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
in
Acta Paediatrica, International Journal of Paediatrics
publisher
Taylor & Francis
external identifiers
  • Scopus:84987711724
ISSN
0803-5253
DOI
10.1111/apa.13536
language
English
LU publication?
yes
id
e86f7eb8-4c8e-4f34-95c2-f8bc5220c163
date added to LUP
2016-10-07 13:46:18
date last changed
2016-11-27 04:43:18
@misc{e86f7eb8-4c8e-4f34-95c2-f8bc5220c163,
  abstract     = {<p>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.</p>},
  author       = {Fahnehjelm, Kristina Teär and Liu, Ying and Olsson, David and Amrén, Urban and Haglind, Charlotte Bieneck and Holmström, Gerd and Halldin, Maria and Andreasson, Sten and Nordenström, Anna},
  issn         = {0803-5253},
  keyword      = {Chorioretinal atrophy,Electroretinography,Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency},
  language     = {eng},
  publisher    = {ARRAY(0x928e260)},
  series       = {Acta Paediatrica, International Journal of Paediatrics},
  title        = {Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function},
  url          = {http://dx.doi.org/10.1111/apa.13536},
  year         = {2016},
}