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Article

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

Ophthalmic genetics - 1 Jun 2018

Wangtiraumnuay Nutsuchar, Alnabi Waleed Abed, Tsukikawa Mai, Thau Avrey, Capasso Jenina, Sharony Reuven, Inglehearn Chris F, Levin Alex V

Abstract excerpt

BACKGROUND/AIMS: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6. MATERIALS AND METHODS: Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome...

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Source

Identifiers

PMID: 29676688
DOI: 10.1080/13816810.2018.1432063

Genes

PEX6
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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