Definition
The peroxisomal biogenesis disorders are autosomal recessive disorders that include cerebrohepatorenal syndrome (Zellweger syndrome), adrenoleukodystrophy, infantile Refsum’s disease, and Alagille syndrome. These disorders are characterized by abnormal oxidation and toxic accumulation of very long-chain fatty acids.
Cerebrohepatorenal syndrome is the most severe and most common peroxisomal disorder of early infancy affecting 1 in 50,000 live births. It is characterized by craniofacial dysmorphism and profound neurologic abnormalities with infants rarely surviving beyond the first year of life. Systemic findings include muscular hypotonia, seizures, poor feeding, sensorineural hearing loss, deficient cerebral myelination, renal cysts, and hepatomegaly.
Ocular findings are diverse and include hypertelorism, shallow supraorbital ridges, epicanthal folds, microphthalmia, nystagmus, corneal clouding, cataract, glaucoma, and...
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Zayit-Soudry, S., Mimouni, M. (2014). Cerebrohepatorenal (Zellweger) Syndrome. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1015-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_1015-1
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Publisher Name: Springer, Berlin, Heidelberg
Online ISBN: 978-3-642-35951-4
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