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Article

Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation.

Journal of glaucoma - 1 Apr 2003

Lim Pauline, Lichter Paul R, Higashi Misao, Downs Catherine A, Richards Julia E

Abstract excerpt

PURPOSE: To report a family with a myocilin (MYOC) gene mutation ascertained on the basis of the phenotype of the 71-year-old proband with juvenile-onset primary open-angle glaucoma (JOAG). PATIENTS AND METHODS: A thorough patient history of the proband and review of medical records revealed that a filtering procedure performed 50 years before had controlled the intraocular pressure (IOP) and prevented optic disc...

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Source

Identifiers

PMID: 12671462
DOI: 10.1097/00061198-200304000-00002

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation.PMID 12671462Read ↗

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Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.Semantic proximity Read ↗

Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.Semantic proximity Read ↗

The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma.Semantic proximity Read ↗

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.Semantic proximity Read ↗

The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.Semantic proximity Read ↗

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.Semantic proximity Read ↗

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