Novel retinal findings in peroxisomal biogenesis disorders

B. E. O’Bryhim, B. A. Kozel, G. T. Lueder

Research output: Contribution to journalArticlepeer-review

Abstract

Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy. We report an unusual retinal manifestation of peroxisomal biogenesis disorder.

Original languageEnglish
Pages (from-to)377-379
Number of pages3
JournalOphthalmic Genetics
Volume39
Issue number3
DOIs
StatePublished - May 4 2018

Keywords

  • Chorioretinal fold
  • epiretinal membrane
  • peroxisomal biogenesis disorder

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