Primary open-angle glaucoma genes

Fingert, John H.

doi:10.1038/eye.2011.97

Cited by 191 publications

(187 citation statements)

References 76 publications

(98 reference statements)

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“…Genes that may play an important role in the pathogenesis of POAG have been intensively investigated. Different approaches are being used to study the genetics of this type of glaucoma, offering new insights into the pathogenesis of this disease (Fingert, 2011). Recent studies examining POAG in Caucasian populations from the United States revealed that disease susceptibility was linked to the GLC1I locus on chromosome 15q (Allingham et al, 2005;Woodroffe et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

Costa¹,

Silva²,

Frare³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. The CYP1A1 gene is related to the generation of secondary metabolites that are capable of inducing DNA damage. The CYP1A1m1 polymorphism has been examined in many studies, and is located in a region near loci that have been linked to glaucoma, including the locus GLC1I. As a result, this polymorphism has been related to several diseases that are influenced by exposure to xenobiotic as well as primary open-angle glaucoma. We compared the prevalence of the CYP1A1m1 polymorphism in 152 Brazilian patients, 100 patients with primary open-angle glaucoma, and 52 normal controls using restriction fragment length polymorphism analysis. The frequency of the homozygous wild-type (w1/w1) CYP1A1 gene among patients with primary open-angle glaucoma (N = 100) was 16%, for genotype w1/m1, the frequency was 77%, and for m1/m1 it was 7%. Among the control group (N = 52), the frequency of the homozygous wild-type (w1/w1) CYP1A1 gene was 54%, the frequency of w1/m1 was 46%, and the frequency of m1/m1 was 0%. The presence of the CYP1A1m1 polymorphism may interfere with xenobiotic metabolism and exacerbate direct or indirect damage to the optic nerve. These CYP1A1m1

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Section: Discussionmentioning

confidence: 99%

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

Costa¹,

Silva²,

Frare³

et al. 2014

Genet. Mol. Res.

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“…Most commonly associated with normal tension glaucoma, optineurin mutations have also been linked to POAG [17]. Together, mutations within the optineurin and myocilin genes have been encountered in up to 5% of adult-onset cases of POAG [18].…”

Section: Genes Associated With Poagmentioning

confidence: 99%

Open-angle glaucoma: therapeutically targeting the extracellular matrix of the conventional outflow pathway

O’Callaghan

Cassidy

Humphries

2017

Expert Opinion on Therapeutic Targets

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Introduction:Ocular hypertension in open-angle glaucoma is caused by a reduced rate of removal of aqueous humour (AH) from the eye, with the majority of AH draining from the anterior chamber through the conventional outflow pathway, comprising the trabecular meshwork (TM) and Schlemm's Canal. Resistance to outflow is generated, in part, by the extracellular matrix (ECM) of the outflow tissues. Current pressure-lowering topical medications largely suppress AH production, or enhance its clearance through the unconventional pathway. However, therapies targeting the ECM of the conventional pathway in order to decrease intraocular pressure have become a recent focus of attention. Areas covered: We discuss the role of ECM of the TM in outflow homeostasis and its relevance as a target for glaucoma therapy, including progress in development of topical eye formulations, together with gene therapy approaches based on inducible, virally-mediated expression of matrix metalloproteinases to enhance aqueous outflow. Expert opinion: There remains a need for improved glaucoma medications that more specifically act upon sites causative to glaucoma pathogenesis. Emerging strategies targeting the ECM of the conventional outflow pathway, or associated components of the cytoskeleton of TM cells, involving new pharmacological formulations or genetically-based therapies, are promising avenues of future glaucoma treatment. ARTICLE HISTORY

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“…Some even leave the eye behind in order to venture into the Central Nervous System in search of an explanation. Currently, glaucoma is seen either as a hereditary degenerative disorder [20], a CNS disease [21] or as an autoimmune process [22], among other labels.…”

Section: Glaucoma: How Many Different Diseases?mentioning

confidence: 99%

Glaucoma as a Tax on Hominid Evolution. Constraints of the Experimental Animal Models of Glaucoma

Carreras¹

2016

J Clin Exp Ophthalmol

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Glaucoma continues to be a mysterious disease. High intraocular pressure (IOP), once the landmark of the disease, has been relegated to the humble role of risk factor, despite the fact that lowering IOP continues to be the only partially successful treatment. Even with an IOP successfully controlled to statistical standards, many patients still mysteriously continue to progressively lose neural tissue. A novel pathogenetical mechanism has recently been put forward as the main agent of the disease. In this new light, some structural details of the human eye, the result of the peculiar evolutionary development, take on an unexpected role in the presentation of the disease. As results of cladistics analysis, the human eye appears as particularly prone to suffering glaucoma as a consequence of the evolutionary path taken. That makes glaucoma essentially a human (and related hominid) scourge. Exclusive features of the human eye compared to other vertebrates involve both the anterior and posterior segment. Those features that facilitate glaucoma in humans are absent in many of the purported animal models for the disease, and this inadequacy further convolutes the mystery of glaucoma. This suggests the division of the animal models into those that mimic the whole disease and those that only reproduce a pertinent histological feature. Unfortunately most animal models are based on high intraocular pressure which excludes most cases of low or moderate pressure. For any animal model, it is important the researcher accurately establishes the constraints of the model in order to avoid jumping to conclusions.

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Primary open-angle glaucoma genes

Cited by 191 publications

References 76 publications

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

Open-angle glaucoma: therapeutically targeting the extracellular matrix of the conventional outflow pathway

Glaucoma as a Tax on Hominid Evolution. Constraints of the Experimental Animal Models of Glaucoma

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