Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Ophthalmic genetics - 1 Feb 2026

Theunis Miel, Van De Sompele Stijn, Jacob Julie, Vermeer Sascha, Van Aerschot Joseph

Abstract excerpt

INTRODUCTION: Heimler syndrome is a rare autosomal recessive disorder at the mild end of the peroxisomal biogenesis disorders (PBDs), characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy. Nail abnormalities affect a minority. CASE PRESENTATION: We present a 67-year-old woman diagnosed with non-syndromic retinitis pigmentosa in her fifties, who was later found to carry...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Amelogenesis Imperfecta
Share to ATPases Associated with Diverse Cellular Activities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Delayed Diagnosis

Share to Hearing Loss, Sensorineural

Share to Nails, Malformed

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 41126390
DOI: 10.1080/13816810.2025.2568688

Genes

PEX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.PMID 41126390Read ↗

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.Semantic proximity Read ↗

Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.Semantic proximity Read ↗

Diagnosis of a mild peroxisomal phenotype with next-generation sequencingSemantic proximity Read ↗

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.Semantic proximity Read ↗

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.Semantic proximity Read ↗

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.Semantic proximity Read ↗

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

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

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.Semantic proximity Read ↗

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.Semantic proximity Read ↗

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.Semantic proximity Read ↗

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.