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

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Experimental eye research - 1 Apr 2020

George Aman, Cogliati Tiziana, Brooks Brian P

Abstract excerpt

Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Ataxia
Share to Brain

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

Share to Cholestasis

Share to Coloboma

Share to Congenital Ear and Nasal Anomalies

Share to Genetic Predisposition to Disease

Share to Liver Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 32032630
DOI: 10.1016/j.exer.2020.107940
PMCID: PMC7310839

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.PMID 32032630Read ↗

Ocular coloboma: a reassessment in the age of molecular neuroscienceSemantic proximity Read ↗

Ocular coloboma: Genetic variants reveal a dynamic model of eye developmentSemantic proximity Read ↗

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature reviewSemantic proximity Read ↗

Conserved genetic pathways associated with microphthalmia, anophthalmia, and colobomaSemantic proximity Read ↗

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic FeaturesSemantic proximity Read ↗

Congenital eye anomalies: More mosaic than thought?Semantic proximity Read ↗

Ocular colobomata.Semantic proximity Read ↗

Eyes on CHARGE syndrome: Roles of CHD7 in ocular developmentSemantic proximity Read ↗

The Molecular Basis of Human Anophthalmia and MicrophthalmiaSemantic proximity Read ↗

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

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.Semantic proximity Read ↗

Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directionsSemantic proximity Read ↗

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