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Improved electroretinographic responses following dietary intervention in a patient with Refsum disease

Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids. Phytanic acid accumulates in nervous and adipose tissue and leads to several di...

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Autores principales: Benson, Matthew D., MacDonald, Ian M., Sheehan, Melissa, Jain, Shailly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463047/
https://www.ncbi.nlm.nih.gov/pubmed/32904930
http://dx.doi.org/10.1002/jmd2.12147
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author Benson, Matthew D.
MacDonald, Ian M.
Sheehan, Melissa
Jain, Shailly
author_facet Benson, Matthew D.
MacDonald, Ian M.
Sheehan, Melissa
Jain, Shailly
author_sort Benson, Matthew D.
collection PubMed
description Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids. Phytanic acid accumulates in nervous and adipose tissue and leads to several disease phenotypes including early‐onset retinal degeneration, hearing loss, peripheral neuropathy, anosmia, and cerebellar ataxia, among others. Currently, restricting dietary phytanic acid is the only means of altering the chronic sequelae and the disease course. While dietary intervention has been demonstrated to improve peripheral neuropathy, ichthyosis, and ataxia, there have been no reports of improved retinal function in patients with Refsum disease. We describe the case of a 51‐year‐old patient with molecularly and biochemically confirmed Refsum disease who underwent electroretinography before and after beginning a phytanic acid‐restricted diet. His post‐intervention 30 Hz flicker electroretinogram demonstrated significantly improved waveform amplitudes and implicit times, suggesting improved retinal function. Thus, we propose that the possibility exists for some visual recovery in these patients and we highlight the utility of performing standardized electroretinography to assess treatment response in Refsum disease.
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spelling pubmed-74630472020-09-03 Improved electroretinographic responses following dietary intervention in a patient with Refsum disease Benson, Matthew D. MacDonald, Ian M. Sheehan, Melissa Jain, Shailly JIMD Rep Case Reports Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids. Phytanic acid accumulates in nervous and adipose tissue and leads to several disease phenotypes including early‐onset retinal degeneration, hearing loss, peripheral neuropathy, anosmia, and cerebellar ataxia, among others. Currently, restricting dietary phytanic acid is the only means of altering the chronic sequelae and the disease course. While dietary intervention has been demonstrated to improve peripheral neuropathy, ichthyosis, and ataxia, there have been no reports of improved retinal function in patients with Refsum disease. We describe the case of a 51‐year‐old patient with molecularly and biochemically confirmed Refsum disease who underwent electroretinography before and after beginning a phytanic acid‐restricted diet. His post‐intervention 30 Hz flicker electroretinogram demonstrated significantly improved waveform amplitudes and implicit times, suggesting improved retinal function. Thus, we propose that the possibility exists for some visual recovery in these patients and we highlight the utility of performing standardized electroretinography to assess treatment response in Refsum disease. John Wiley & Sons, Inc. 2020-07-12 /pmc/articles/PMC7463047/ /pubmed/32904930 http://dx.doi.org/10.1002/jmd2.12147 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Benson, Matthew D.
MacDonald, Ian M.
Sheehan, Melissa
Jain, Shailly
Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
title Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
title_full Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
title_fullStr Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
title_full_unstemmed Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
title_short Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
title_sort improved electroretinographic responses following dietary intervention in a patient with refsum disease
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463047/
https://www.ncbi.nlm.nih.gov/pubmed/32904930
http://dx.doi.org/10.1002/jmd2.12147
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