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Genetics of primary congenital glaucoma

Primary Congenital Glaucoma (PCG) is a major risk factor for vision loss in children, which is manifested from birth to three years of age. In PCG the ocular developmental defects of the trabecular meshwork (TM) and front chamber position of eye lead to the blockage of aqueous loss and consequentl...

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Main Authors: Atif Amin, Baig, Muhammad Umer, Khan, Wajeeha, Tabassum
Format: Article
Language:English
Published: 2019
Subjects:
QH301 Biology
R Medicine (General)
Online Access:http://eprints.unisza.edu.my/6633/1/FH02-FP-19-35974.pdf
http://eprints.unisza.edu.my/6633/
http://dx.doi.org/10.12692/ijb/15.5.495-505
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spelling my-unisza-ir.66332022-05-22T01:17:17Z http://eprints.unisza.edu.my/6633/ Genetics of primary congenital glaucoma Atif Amin, Baig Muhammad Umer, Khan Wajeeha, Tabassum QH301 Biology R Medicine (General) Primary Congenital Glaucoma (PCG) is a major risk factor for vision loss in children, which is manifested from birth to three years of age. In PCG the ocular developmental defects of the trabecular meshwork (TM) and front chamber position of eye lead to the blockage of aqueous loss and consequently an increased intraocular pressure (IOP). This results in photophobia, corneal clouding, optic nerve damage, and ultimately permanent loss of vision occurs. The incidence of PCG varies geographically. In Eastern culture, consanguineous marriages may play a role in a higher rate of PCG. Four loci of GLC3A, GLC3B, GLC3C, and 14q24.2-q24.3 to be linked to this ocular condition have been identified. Currently, mutations in two genes i.e.CYP1B1 at GLC3A locus, which encodes cytochrome P4501B1, and LTBP2 at GLC3D locus, which encodes LTBP2is known to cause PCG.CYP1B1 comprises of 3 exons encoding a 543 amino acid protein. CYPIBI is a gene that belongs to the cytochrome P450 family of enzymes. The cytochrome P450 proteins are monooxygenases that catalyse many reactions involved in the synthesis of cholesterol, steroids, other lipids, and drug metabolism. A lot of mutations have been reported in CYP1B1, which results in the form of PCG. 2019-12 Article PeerReviewed text en http://eprints.unisza.edu.my/6633/1/FH02-FP-19-35974.pdf Atif Amin, Baig and Muhammad Umer, Khan and Wajeeha, Tabassum (2019) Genetics of primary congenital glaucoma. International Journal of Biosciences, 15 (5). pp. 495-505. ISSN 2220-6655 http://dx.doi.org/10.12692/ijb/15.5.495-505
institution Universiti Sultan Zainal Abidin
building UNISZA Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Sultan Zainal Abidin
content_source UNISZA Institutional Repository
url_provider https://eprints.unisza.edu.my/
language English
topic QH301 Biology
R Medicine (General)
spellingShingle QH301 Biology
R Medicine (General)
Atif Amin, Baig
Muhammad Umer, Khan
Wajeeha, Tabassum
Genetics of primary congenital glaucoma
description Primary Congenital Glaucoma (PCG) is a major risk factor for vision loss in children, which is manifested from birth to three years of age. In PCG the ocular developmental defects of the trabecular meshwork (TM) and front chamber position of eye lead to the blockage of aqueous loss and consequently an increased intraocular pressure (IOP). This results in photophobia, corneal clouding, optic nerve damage, and ultimately permanent loss of vision occurs. The incidence of PCG varies geographically. In Eastern culture, consanguineous marriages may play a role in a higher rate of PCG. Four loci of GLC3A, GLC3B, GLC3C, and 14q24.2-q24.3 to be linked to this ocular condition have been identified. Currently, mutations in two genes i.e.CYP1B1 at GLC3A locus, which encodes cytochrome P4501B1, and LTBP2 at GLC3D locus, which encodes LTBP2is known to cause PCG.CYP1B1 comprises of 3 exons encoding a 543 amino acid protein. CYPIBI is a gene that belongs to the cytochrome P450 family of enzymes. The cytochrome P450 proteins are monooxygenases that catalyse many reactions involved in the synthesis of cholesterol, steroids, other lipids, and drug metabolism. A lot of mutations have been reported in CYP1B1, which results in the form of PCG.
format Article
author Atif Amin, Baig
Muhammad Umer, Khan
Wajeeha, Tabassum
author_facet Atif Amin, Baig
Muhammad Umer, Khan
Wajeeha, Tabassum
author_sort Atif Amin, Baig
title Genetics of primary congenital glaucoma
title_short Genetics of primary congenital glaucoma
title_full Genetics of primary congenital glaucoma
title_fullStr Genetics of primary congenital glaucoma
title_full_unstemmed Genetics of primary congenital glaucoma
title_sort genetics of primary congenital glaucoma
publishDate 2019
url http://eprints.unisza.edu.my/6633/1/FH02-FP-19-35974.pdf
http://eprints.unisza.edu.my/6633/
http://dx.doi.org/10.12692/ijb/15.5.495-505
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score 13.211869

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