Article

Peroxisome Biogenesis Disorders in the Zellweger Spectrum: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review

2022-11-07

Abstract excerpt

<h4>Background</h4> Zellweger Spectrum Disorder (ZSD) is caused by bi-allelic defects in any of 13 PEX genes, resulting in failure to form functional peroxisomes. Individuals manifest a wide spectrum of clinical phenotypes and severity, but almost all have retinal degeneration leading to blindness. The onset, extent and progression of retinal findings has not been well-described and there are no therapies for trea...

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Literature Corpus work: d4d3c8a2-07f3-5c2b-8182-9ce3eabd8b84
DOI: 10.1101/2022.11.06.22279732

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