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

Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients.

Ophthalmic genetics - 1 Oct 2026

Apam-Garduño David, Villanueva-Mendoza Cristina, Prado-Larrea Carolina, Zenteno Juan Carlos, Cortés-González Vianney

Abstract excerpt

INTRODUCTION: Anterior segment dysgenesis is a heterogeneous group of developmental conditions affecting the anterior segment of the eye. These could have a significant impact on vision due to development of secondary childhood glaucoma. Their classification is complex due to genetic and clinical heterogeneity. Variants in the CPAMD8 gene have been shown to result in abnormalities such as cataract, iris...

Read the complete abstract on PubMed

Topics

Humans
Phenotype
Eye Abnormalities
Female
Male
Anterior Eye Segment
Mexico

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome Sequencing

Cytoskeletal Proteins

Mutation

Glaucoma

Child, Preschool

Pedigree

Alleles

Child

Source

Identifiers

PMID: 41917731
DOI: 10.1080/13816810.2026.2651181

Genes

CPAMD8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients.PMID 41917731Read ↗

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.Semantic proximity Read ↗

Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic <i>CPAMD8</i> variantsSemantic proximity Read ↗

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.Semantic proximity Read ↗

CPAMD8, a New Gene for Anterior Segment Dysgenesis and Childhood GlaucomaSemantic proximity Read ↗

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Semantic proximity Read ↗

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene.Semantic proximity Read ↗

Anterior megalophthalmos associated with CPAMD8 mutation: a case report.Semantic proximity Read ↗

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical ManifestationsSemantic proximity Read ↗

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.Semantic proximity Read ↗

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.Semantic proximity Read ↗

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.Semantic proximity Read ↗

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.Semantic proximity Read ↗

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