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Article

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

Journal of glaucoma - 1 Mar 2024

Kader Mohideen Abdul, Devarajan Bharanidharan, Vijayan Saravanan, Ramakrishnan Rengappa, Sundaresan Periasamy, Uduman Mohammed Sithiq, Krishnadas Subbiah R, Kuppamuthu Dharmalingam

Abstract excerpt

PRÉCIS: A pathogenic autosomal dominant MYOC mutation N480K detected in 6 generations of an Indian family is primarily responsible for juvenile open angle glaucoma (JOAG) and adult-onset primary open angle glaucoma (POAG), emphasizing the importance of screening this mutation at a younger age. PURPOSE: To screen myocilin mutations in a large South Indian family with early-onset JOAG and adult-onset POAG. METHODS:...

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Source

Identifiers

PMID: 37670504
DOI: 10.1097/IJG.0000000000002286

Genes

MYOC
CYP1B1

Variants

Provenance

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Related research

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Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.PMID 37670504Read ↗

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Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.Semantic proximity Read ↗

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