Associated Papers
A review of the role of EFEMP1 in ophthalmic disease.
Wood AJ et al.
Ophthalmic Genetics, 2025
A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.
Chacon-Camacho OF et al.
American Journal of Medical Genetics. Part A, 2025
Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow.
Tan J et al.
Experimental Eye Research, 2024
Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.
Xiao X et al.
Journal of Cellular Biochemistry, 2024
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Collantes ERA et al.
Human Mutation, 2022
Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.
Tejan-Kamara AZ et al.
Ophthalmology. Glaucoma, 0
Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).
Young BP et al.
Ophthalmology. Glaucoma, 0
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