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Neurological Sciences

, Volume 37, Issue 6, pp 1013–1015 | Cite as

Eye movement abnormalities in a patient with Zellweger spectrum disorder

  • F. Rosini
  • C. Vinciguerra
  • A. Mignarri
  • M. Di Giovanni
  • A. Federico
  • A. Rufa
Letter to the Editor

Dear Sir,

Zellweger spectrum disorders (ZSDs) are included in peroxisomal biogenesis disorders, a wide spectrum of diseases due to mutations in genes (PEX), leading to loss of peroxisomal metabolic functions. ZSDs have an autosomal recessive transmission and encompass a continuum of three different phenotypes, i.e. Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The onset is in the newborn period or later in childhood. Though the prognosis is usually poor, milder phenotypes with clinical heterogeneity have been reported [1]. Visual system abnormalities, including retinal degeneration, optic nerve atrophy, cataracts, corneal changes and glaucoma are commonly described in ZSDs [2]. Moreover, pendular nystagmus (PN) is almost always present [3]. However, given the precocious appearance of hypovision and the usually young age of the patients, little is known about quantitative eye movements features in the various phenotypes of ZSDs.

We examined the eye...

Keywords

Zellweger spectrum disorders Peroxisomal diseases Eye movement abnormalities Gaze-evoked nystagmus 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical standard

Patient’s anonymity was protected in this case report.

References

  1. 1.
    Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A (2012) Zellweger spectrum disorder with mild phenotype caused by PEX2 gene mutations. JIMD Rep 6:43–46CrossRefPubMedPubMedCentralGoogle Scholar
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    Noguer MT, Martinez M (2010) Visual follow-up in peroxisomal disorders patients treated with docosahexaenoic acid ethyl ester. Invest Ophthalmol Vis Sci 51(4):2277–2285CrossRefPubMedGoogle Scholar
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    Kori AA, Robin NH, Jacobs JB, Erchul DM, Zaidat OO, Remler BF, Averbuch-Heller L, Dell’Osso LF, Leigh RJ, Zinn AB (1998) Pendular nystagmus in patients with peroxisomal assembly disorders. Arch Neurol 55:554–558CrossRefPubMedGoogle Scholar
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    Leigh RJ, Zee DS (2015) The neurology of eye movements, 5th edn. Oxford University Press, New YorkGoogle Scholar
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    Rosini F, Federighi P, Pretegiani E, Piu P, Leigh RJ, Serra A, Federico A, Rufa A (2013) Ocular-motor profile and effects of memantine in a familiar form of adult cerebellar ataxia with slow saccades and square wave saccadic intrusions. PLoS One 8:e69522CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag Italia 2016

Authors and Affiliations

  • F. Rosini
    • 1
  • C. Vinciguerra
    • 2
  • A. Mignarri
    • 2
  • M. Di Giovanni
    • 2
  • A. Federico
    • 2
  • A. Rufa
    • 1
  1. 1.Eye Tracking and Visual Application Lab (EVALab), Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and NeurosciencesUniversity of SienaSienaItaly
  2. 2.Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and NeurosciencesUniversity of SienaSienaItaly

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