Eye movement abnormalities in a patient with Zellweger spectrum disorder
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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 . Visual system abnormalities, including retinal degeneration, optic nerve atrophy, cataracts, corneal changes and glaucoma are commonly described in ZSDs . Moreover, pendular nystagmus (PN) is almost always present . 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...
KeywordsZellweger spectrum disorders Peroxisomal diseases Eye movement abnormalities Gaze-evoked nystagmus
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Conflict of interest
The authors declare that they have no conflict of interest.
Patient’s anonymity was protected in this case report.
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