We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
American Journal of Ophthalmology 1997 June
PURPOSE: To define the ophthalmologic findings in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, an inborn error of mitochondrial beta-oxidation.
METHOD: Case report.
RESULTS: A 5-year-old girl with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency had a bilateral acquired disturbance of the retinal pigment epithelium consisting of a central macular spot and regularly spaced peripheral spots. Central and peripheral vision and dark adaptation appeared to be mildly compromised. Electroretinography showed abnormalities of the cone system.
CONCLUSIONS: An excess of long chain and very long chain fatty acid intermediates has been postulated as the cause of the retinopathy in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency and the biochemically related peroxisomal disorders. Dietary management may slow or halt progression. Ophthalmoscopic detection of regularly spaced pigment spots could help identify long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in future cases.
METHOD: Case report.
RESULTS: A 5-year-old girl with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency had a bilateral acquired disturbance of the retinal pigment epithelium consisting of a central macular spot and regularly spaced peripheral spots. Central and peripheral vision and dark adaptation appeared to be mildly compromised. Electroretinography showed abnormalities of the cone system.
CONCLUSIONS: An excess of long chain and very long chain fatty acid intermediates has been postulated as the cause of the retinopathy in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency and the biochemically related peroxisomal disorders. Dietary management may slow or halt progression. Ophthalmoscopic detection of regularly spaced pigment spots could help identify long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in future cases.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app