Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
Zellweger Spectrum Disorder
Main Features
Range of multisystemic manifestations of varying severity involving the following systems: neurologic, liver, adrenal, bone, hearing, vision
Disease severity associated with level of residual PEX protein function in the peroxisomes
AKA: Zellweger syndrome (severe) neonatal adrenoleukodystrophy (intermediate severity), infantile Refsum disease (mild) and Heimler syndrome (milder)
Eye Findings
Progressive retinopathy leading to blindness
retinitis pigmentosa
macular atrophy
extinguished ERG
retinal arteriolar attenuation
Cystoid macular edema
peripheral visual field loss
nyctalopia
dyschromatopsia
Optic nerve atrophy
nystagmus and poor visual acuity
Cataracts
Corneal clouding
Glaucoma
Other Findings
Severe types
newborn hypotonia
congenital malformations associated with neuronal migration deficits
neonatal seizures, renal cysts, bony stippling (chrondroplasia punctata), liver disease
Intermediate or mild subtypes
progressive peroxisome dysfunction with sensory loss
hearing and vision, ataxia, polyneuropathy, leukodystrophy,
liver dysfunction, adrenal insufficiency, renal oxalate stones
ameleogenesis imperfecta of the secondary teeth
Etiology
Peroxisome biogenesis disorder caused by biallelic mutations in the 13 PEX genes
Resources
Yergeau et al. Zellweger Spectrum Disorder:Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review. Ophthalmology 2023;130:1313-1326
Gene Reviews: Zellweger Spectrum Disorder
syndrome