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

Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.

Ophthalmic genetics - 1 Jun 2023

Gupta Viney, Somarajan Bindu I, Gupta Shikha, Mahalingam Karthikeyan, Kumar Manoj, Singh Abhishek

Abstract excerpt

BACKGROUND: Juvenile onset open-angle glaucoma is described as a primary open-angle glaucoma, with an age of onset before 40 years. These patients have a higher prevalence of myopia. PURPOSE: We describe the phenotype of juvenile onset open-angle glaucoma in a patient with a rare variant in EFEMP1 gene, who was also detected to have Stickler syndrome(STL). METHODS: Whole exome sequencing (WES) was undertaken in...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type XI
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Glaucoma, Open-Angle

Share to Latent TGF-beta Binding Proteins

Share to Mutation

Share to Myopia

Share to Pedigree

Source

Identifiers

PMID: 35946471
DOI: 10.1080/13816810.2022.2109682

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.PMID 35946471Read ↗

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).Semantic proximity Read ↗

Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.Semantic proximity Read ↗

EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.Semantic proximity Read ↗

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.Semantic proximity Read ↗

A review of the role of EFEMP1 in ophthalmic disease.Semantic proximity Read ↗

EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the PhilippinesSemantic proximity Read ↗

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaSemantic proximity Read ↗

Digenic Inheritance in Juvenile Open-Angle GlaucomaSemantic proximity Read ↗

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.Semantic proximity Read ↗

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.Semantic proximity Read ↗

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.Semantic proximity Read ↗

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.Semantic proximity Read ↗

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