Myocilin Variants in Indian Patients With Open-angle Glaucoma
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
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Title |
Myocilin Variants in Indian Patients With Open-angle Glaucoma
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Creator |
Bhattacharjee, Ashima
Acharya, Moulinath Mukhopadhyay, Arijit Mookherjee, Suddhasil Banerjee, Deblina Bandopadhyay, Arun K Thakur, Sanjay K D Sen, Abhijit Ray, Kunal |
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Subject |
Molecular & Human Genetics
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Description |
GLAUCOMA IS A HETEROGEneous group of optic neuropathies with a complex genetic basis. It is a multifactorial optic disc neuropathy in which there is a characteristic acquired loss of retinal ganglion cells and atrophy of the optic nerve.1 Primary open-angle glaucoma (POAG) (Online
Mendelian Inheritance in Man [OMIM] 137760) is the most prevalent of the glaucoma subtypes. The disease is known to
be transmitted as a monogenic disease and as a complex disease. Adult-onset POAG is inherited as a nonmendelian trait, whereas juvenile-onset POAG exhibits autosomal
dominant inheritance.2 Among 11 implicated loci and 3 identified candidate genes, mutations in themyocilin gene
(MYOC) have been most widely studied. Although the pathophysiology is unknown, it has been suggested that mutant MYOC obstructs the outflow of the aqueous humor through the trabecular meshwork, resulting in increased intraocular pressure, which is frequently associated
with glaucoma.
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Date |
2007
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Type |
Article
PeerReviewed |
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Format |
application/pdf
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Identifier |
http://www.eprints.iicb.res.in/374/1/ARCHIVES_OF_OPHTHALMOLOGY%2C_125_(_6)%2C_823%2D829[82].pdf
Bhattacharjee, Ashima and Acharya, Moulinath and Mukhopadhyay, Arijit and Mookherjee, Suddhasil and Banerjee, Deblina and Bandopadhyay, Arun K and Thakur, Sanjay K D and Sen, Abhijit and Ray, Kunal (2007) Myocilin Variants in Indian Patients With Open-angle Glaucoma. ARCH OPHTHALMOL, 125 (6). pp. 823-829. |
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Relation |
http://dx.doi.org/10.1001/archopht.125.6.823
http://www.eprints.iicb.res.in/374/ |
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