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Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.
Features include: Open angle glaucoma and Myopia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Open angle glaucoma |
OPTN encodes optineurin (577 aa). Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Highest expression in Muscle Skeletal (367.0 TPM) and Artery Tibial (110.7 TPM).
OPTN-related open angle glaucoma is associated with mutations in the OPTN gene on chromosome 10.
OPTN is classified as a druggable target (Transcription Factor category) with score 0.0.
Genetic testing for OPTN is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for OPTN-related open angle glaucoma.
3 publications have been identified in PubMed for OPTN-related open angle glaucoma. Research spans Basic Science / Preclinical (67%) and Epidemiology / Natural History (33%).
Yadav M (2025). [PMID: 40719721](https://pubmed.ncbi.nlm.nih.gov/40719721/). *Indian J Ophthalmol*. [Epidemiology / Natural History]
Wang Q (2025). [PMID: 41102382](https://pubmed.ncbi.nlm.nih.gov/41102382/). *Commun Biol*. [Basic Science / Preclinical]
Kim BK (2025). [PMID: 39448868](https://pubmed.ncbi.nlm.nih.gov/39448868/). *Cell Death Differ*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC
Online Mendelian Inheritance in Man
Common questions about OPTN-related open angle glaucoma