Recent advances in molecular genetics of glaucoma.
Glaucoma represents a heterogeneous group of optic neuropathies, with different genetic bases. It can affect all ages generally with a rise in intra-ocular pressure. Three major types of glaucoma have been reported: primary open angle glaucoma (POAG), primary acute closed angle glaucoma (PACG) and primary congenital glaucoma (PCG), as well as a few others associated with developmental abnormalities. In recent years impressive progress has been made in the molecular genetic studies of POAG and PCG. These include the discovery of three genes--Myocilin, Optineurin and CYP1B1--defects in which results in Mendelian transmission of glaucoma. Identification of single nucleotide polymorphisms in multiple other genes that are associated with glaucoma and alteration of drug sensitivity are enriching our knowledge regarding the complex nature of the disease. This review attempts to present the recent progress made in the molecular genetics of glaucoma.
Ray
Kunal
K
Human Genetics and Genomics Division, Indian Institute of Chemical Biology, Jadavpur, Kolkata, India. kunalray@vsnl.com
Mukhopadhyay
Arijit
A
Acharya
Moulinath
M
D001189:Aryl Hydrocarbon Hydroxylases / Q000378:metabolism*; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005123:Eye / Q000378:metabolism*; D005136:Eye Proteins / Q000378:metabolism*; D015894:Genome, Human; D005901:Glaucoma / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D000099179:Myocilin
D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human