======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====
  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EcBIf8Dn_05DirseqgLeSxMBNVOrsHiocrfcJcREUPQ4Mw?e=Z6pSH3|Yergeau et al. Zellweger Spectrum Disorder:Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review. Ophthalmology 2023;130:1313-1326]]
  * [[https://www.ncbi.nlm.nih.gov/books/NBK1448/| Gene Reviews: Zellweger Spectrum Disorder]]

{{tag>syndrome}}