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Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.

Ophthalmology. Glaucoma - 1 Jan 2000

Tejan-Kamara Aminatta Z, Boese Erin A, Pouw Andrew E, Sears Nathan C, Roos Ben R, Stone Edwin M, Scheetz Todd E, Fingert John H

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PMID: 37224920
DOI: 10.1016/j.ogla.2023.05.006

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Related research

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Research trail→

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Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.PMID 37224920Read ↗

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

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

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

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophySemantic proximity Read ↗

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.Semantic proximity Read ↗

Additional EFNB1 mutations in craniofrontonasal syndrome.Semantic proximity Read ↗

Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.Semantic proximity Read ↗

Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.Semantic proximity Read ↗

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