Adult Refsum disease: A form of tapetoretinal dystrophy accessible to therapy.
Abstract
Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. In order to be able to apply dietary therapy, as many patients as possible (even better if all of them are) have to be identified at an early stage. The ophthalmologist plays a crucial role in achieving this goal because of the early manifestation of the tapetoretinal degeneration.
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RDLKD bears partial resemblance to Refsum disease, which features retinitis pigmentosa and cerebellar ataxia.
“With respect to its phenotype, RDLKD bears partial resemblance to Refsum disease, which also features retinitis pigmentosa and cerebellar ataxia (Ruether et al., 2010).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Ruether et al., 2010
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Peroxisomes in brain development and function
Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194 · see citing works
“When phytanic acid levels in the plasma remain low due to dietary restriction or repeated plasmapheresis the progression of the symptoms can be arrested [173,174].”
BackgroundVerheijden, S., Bottelbergs, A., Krysko, O., Krysko, D. V., Beckers, L., De Munter, S., Van Veldhoven, P. P., Wyns, S., Kulik, W., Nave, K.-A., et al. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.06.006 · Cited by 54 · see citing works
The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models
Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7 · see citing works
- Authors
- Rüether, K., Baldwin, E., Casteels, M., Feher, M. D., Horn, M., Kuranoff, S., Leroy, B. P., Wanders, R. J., & Wierzbicki, A. S.
- Affiliations
- Charité – Universitätsmedizin Berlin (DE)
- Chelsea and Westminster Hospital NHS Foundation Trust (GB)
- KU Leuven (BE)
- Oslo University Hospital (NO)
- Ghent University Hospital (BE)
- Amsterdam UMC Location University of Amsterdam (NL)
- Corresponding author
- Rüether, Klaus
- ORCID
- Venue
- Survey of Ophthalmology
- Publisher
- Elsevier BV
- Published
- 2010-11
- Volume
- 55
- Issue
- 6
- Pages
- 531-538
- ISSN
- 0039-6257 (ISSN-L)
- OpenAlex
- W2155911957
- Cited by
- 42
- References
- 0
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 1 · 2022: 5 · 2021: 5 · 2020: 1 · 2019: 2 · 2018: 3 · 2017: 2 · 2016: 1 · 2015: 6 · 2014: 2 · 2013: 2 · 2012: 3
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Survey of Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- Refsum disease, phytanic acid, tapetoretinal degeneration, dietary therapy, polyneuropathy, cerebellar ataxia, anosmia, ichthyosis, early diagnosis, ophthalmologist role, inborn errors of metabolism
- MeSH terms
- Adult, Humans, Phytanic Acid, Refsum Disease, Retinitis Pigmentosa
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