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Article

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.

Ophthalmic genetics - 1 Aug 2024

Karuntu Jessica S, Klouwer Femke C C, Engelen Marc, Boon Camiel J F

Abstract excerpt

PURPOSE: This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder. METHODS: Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus photography, spectral-domain optical coherence...

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Share to ATPases Associated with Diverse Cellular Activities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38664000
DOI: 10.1080/13816810.2024.2330389

Genes

PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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