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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
Creator Bhattacharjee, Ashima
Acharya, Moulinath
Mukhopadhyay, Arijit
Mookherjee, Suddhasil
Banerjee, Deblina
Bandopadhyay, Arun K
Thakur, Sanjay K D
Sen, Abhijit
Ray, Kunal
Subject Molecular & Human Genetics
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.
Date 2007
Type Article
Format application/pdf
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.
Relation http://dx.doi.org/10.1001/archopht.125.6.823