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1 results on '"CYTOCHROMES"'

1. Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.

Author

ACHARYA, MOULINATH, MUKHOPADHYAY, ARIJIT, BHATTACHARJEE, ASHIMA, THAKUR, SANJAY K. D., BANDYOPADHYAY, ARUN K., and RAY, KUNAL

Subjects
*GLAUCOMA, *GENES, *CYTOCHROMES, *INTRAOCULAR pressure, *PHENOTYPES, *GENETIC polymorphisms, *GENETICS
Abstract

The article discusses the findings of a study conducted in Kolkata, India on the genetic aspects of glaucoma. It is said that primary open angle glaucoma (POAG) and primary congenital glaucoma (PCG) exhibit defects in the gene called myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and cytochrome P1B1 (CYP1B1), respectively. Elevated intraocular pressure (IOP) is the major risk factor of glaucoma. The phenotypic findings regarding a homozygous genetic variant for a 29-year old man diagnosed to have POAG is discussed.

Published
2008
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