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Article

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

Ophthalmology. Glaucoma - 1 Jan 2026

Young Brian P, Nyunt Angela W, Clymer Molly A, Tollefson Mallory R, Roos Ben R, Schnieders Michael J, Robin Alan L, Fingert John H

Abstract excerpt

PURPOSE: Determine the genetic cause of glaucoma in a juvenile open-angle glaucoma (JOAG) pedigree of European ancestry. DESIGN: Case series or pedigree analysis PARTICIPANTS: A three-generation JOAG pedigree METHODS: We obtained clinical data and tested DNA for mutations in known JOAG-causing genes with Sanger sequencing for MYOC and whole exome sequencing for EFEMP1. We assessed identified mutations for...

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Identifiers

PMID: 40876537
DOI: 10.1016/j.ogla.2025.08.003
PMCID: PMC12570167

Genes

EFEMP1
MYOC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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