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Article

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

Investigative ophthalmology & visual science - 1 Sept 2004

Willoughby Colin E, Chan Louie Loh Yen, Herd Sarah, Billingsley Gail, Noordeh Nima, Levin Alex V, Buys Yvonne, Trope Graham, Sarfarazi Mansoor, Héon Elise

Abstract excerpt

PURPOSE: Juvenile open-angle glaucoma (JOAG) differs from primary open-angle glaucoma in that it is usually a more severe phenotype and has an earlier age of onset. Optineurin was recently associated with a variant of POAG that is characterized by intraocular pressure within normal limits: normal-tension glaucoma. The present study tested whether OPTN sequence changes play a role in early-onset glaucoma...

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Source

Identifiers

PMID: 15326130
DOI: 10.1167/iovs.04-0107

Genes

OPTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.PMID 15326130Read ↗

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Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.Semantic proximity Read ↗

Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma.Semantic proximity Read ↗

Optineurin in primary open angle glaucoma.Semantic proximity Read ↗

A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.Semantic proximity Read ↗

Juvenile-onset open-angle glaucoma - A clinical and genetic update.Semantic proximity Read ↗

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.Semantic proximity Read ↗

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