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

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.

Ophthalmic genetics - 1 Dec 2025

Bourke C, Thompson D A, Moosajee M, Lloyd I C

Abstract excerpt

PURPOSE: To describe previously unreported ocular manifestations associated with a de novo PAX2 variant and emphasise their diagnostic significance in PAX2 related disorder. METHODS: A two month old boy underwent comprehensive ocular assessment (cycloplegic refraction, slit lamp biomicroscopy, axial length, and fundus imaging), full field and multifocal electroretinography, high resolution orbital MRI, and renal...

Read the complete abstract on PubMed

Topics

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

Share to Anterior Eye Segment
Share to Coloboma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Heterozygote

Share to Infant

Share to Magnetic Resonance Imaging

Share to Optic Nerve

Share to PAX2 Transcription Factor

Source

Identifiers

PMID: 40582774
DOI: 10.1080/13816810.2025.2519747

Genes

PAX2
ERG
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.PMID 40582774Read ↗

Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome.Semantic proximity Read ↗

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.Semantic proximity Read ↗

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.Semantic proximity Read ↗

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?Semantic proximity Read ↗

[Clinical features and genetic analysis for PAX6-associated ocular diseases].Semantic proximity Read ↗

A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.Semantic proximity Read ↗

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.Semantic proximity Read ↗

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Semantic proximity Read ↗

A review of the genetics and clinical manifestations of Donnai-Barrow syndrome.Semantic proximity Read ↗

Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.Semantic proximity Read ↗

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.Semantic proximity Read ↗

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.Semantic proximity Read ↗

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