Glaucoma: genes, phenotypes, and new directions for therapy

Fan, Bao Jian; Wiggs, Janey L.

doi:10.1172/jci43085

Cited by 122 publications

(100 citation statements)

References 132 publications

(94 reference statements)

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“…Among others, a basic risk factor for the prevalence and incidence of POAG is increasing age and it is likely that mitochondrial dysfunction may serve as one of the links between ageing and glaucoma [26,27]. The impact of genetic variations to the development of POAG has been demonstrated and disease-associated genes recognized [28]. Several evidences also suggest that interactions between genetic and environmental factors confer the multifaceted disease phenotypes of POAG [29,30].…”

Section: Discussionmentioning

confidence: 99%

Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients’ Cohort

Lavaris¹,

Gazouli²,

Kitsos³

et al. 2016

J Genet Syndr Gene Ther

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Purpose: Glaucoma is a multifactorial optic neuropathy and leading cause of visual impairment and blindness. Multigenic inheritance hypothesis is being investigated over the past decades and numerous mainly causative and synergic polymorphisms have been revealed. Aim of this study is to investigate whether superoxide dismutase 2 (SOD2) polymorphism rs4880 is associated with primary open angle glaucoma (POAG) in Greek population. Materials and method:This is a case control study of 106 POAG patients and 120 thoroughly examined, unrelated, healthy control subjects of Greek origin, surveyed for SOD2 polymorphism rs4880 and potential correlation to POAG.Results: SOD2 rs4880 polymorphism showed no statistically significant difference between POAG patients and healthy controls. Mean intraocular pressure (IOP) of both eyes of the heterozygous (T/C) group was found significantly higher than in homozygous (T/T) group (19.13 ± 0.60 vs. Conclusion:Our study did not find any significant association between SOD2 rs4880 polymorphism and POAG. Mean IOP of the polymorphic (C) allele carriers was found significantly higher than in homozygous (T/T) group. As we cannot reject the possibility that oxidative stress might be a crucial factor for the POAG development further studies may be needed to confirm the importance of SOD2 gene in POAG pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients’ Cohort

Lavaris¹,

Gazouli²,

Kitsos³

et al. 2016

J Genet Syndr Gene Ther

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“…Furthermore, these drug treatments often become ineffective, forcing laser treatments or invasive surgical interventions. Although much of glaucoma is of genetic origin, it has become clear that no single genetic locus is responsible for more than a small portion of glaucoma [10][11][12][13]49]. To date, these various genetic causes of glaucoma have not converged on a single etiologic pathway.…”

Section: Discussionmentioning

confidence: 99%

“…Although the molecular etiology of glaucoma remains poorly understood, genetic and some environmental factors are important [7,[10][11][12][13]. No single gene defect is responsible for more than a small fraction of OAG cases.…”

Section: Introductionmentioning

confidence: 99%

Induced Pluripotent Stem Cells Restore Function in a Human Cell Loss Model of Open-Angle Glaucoma

DW¹,

X²

2016

J Clin Exp Ophthalmol

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Normally, trabecular meshwork (TM) and Schlemm's canal inner wall endothelial cells within the aqueous humor outflow pathway maintain intraocular pressure within a narrow safe range. Elevation in intraocular pressure, because of the loss of homeostatic regulation by these outflow pathway cells, is the primary risk factor for vision loss due to glaucomatous optic neuropathy. A notable feature associated with glaucoma is outflow pathway cell loss. Using controlled cell loss in ex vivo perfused human outflow pathway organ culture, we developed compelling experimental evidence that this level of cell loss compromises intraocular pressure homeostatic function. This function was restored by repopulation of the model with fresh TM cells. We then differentiated induced pluripotent stem cells (iPSCs) and used them to repopulate this cell depletion model. These differentiated cells (TM-like iPSCs) became similar to TM cells in both morphology and expression patterns. When transplanted, they were able to fully restore intraocular pressure homeostatic function. This successful transplantation of TM-like iPSCs establishes the conceptual feasibility of using autologous stem cells to restore intraocular pressure regulatory function in open-angle glaucoma patients, providing a novel alternative treatment option. STEM CELLS 2015;33:751-761

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“…Genetic line of attack make to know that primary open angle glaucoma may be innate either as a general, multifaceted trait with fully developed onset or, fewer commonly, as a conventional Mendelian or monogenic sickness that inclines to have an premature onset (Wiggs, 2007). Hereditary link studies of complex relations, frequently of European lineage, have acknowledged at smallest amount twenty one loci (GLC) for Mendelian arrangements of POAG (Fan and Wiggs, 2010).…”

Section: Primary Open-angle Glaucoma (Poag)mentioning

confidence: 99%

Molecular basis of glaucoma and its therapeutical analysis in Pakistan: an overview

et al. 2017

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The human eye is an organ of vision. It plays a prime role in life, gives us the sense of sight, and enables to understand about the world around us. Visualization and interpretation of colors, shapes and dimensions of numerous objects is made possible by eye. Inherited eye diseases comprise 1/3 of all reported human genetic disorders. This review will focus on Glaucoma which comprises a predictable visual illnesses concerning optic nerve deterioration and if remains without any cure can result in failure in eyesight. The optical nerve injure comprises deterioration of the retinal ganglion cells (RGCs). Glaucoma represents a heterogeneous group of optic neuropathies with a complex genetic basis. These neuropathies gradually reduce vision without warning and often without symptoms. Different forms of glaucoma share some common clinical manifestations that usually include specific abnormal appearance of the optic nerve head, characteristic loss of visual field and chronic painless progression. Glaucoma is a progressive optical neuropathy considered by optical disc changes, nerve fiber film break, and visual field defects. Present-day treatment preferences predominantly targeting at reducing IOP by making use of pharmaceutical means, laser treatment and surgical procedure. Developed conducts target neuroprotection with vaccines, the hang-up of NO synthesis and apoptosis. Attaining a better appreciative of the pathogenesis can support in the improvement of novel handling options and, perhaps, even a remedy for glaucoma. There are more than 1.8million glaucoma patients in Pakistan and almost half of them have already lost their eyesight, permanently, due to delay in diagnosis and treatment. About 90% population in the country has no awareness about this disease, resultantly; more and more people are becoming permanently blind in Pakistan due to untreated glaucoma.

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Glaucoma: genes, phenotypes, and new directions for therapy

Cited by 122 publications

References 132 publications

Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients’ Cohort

Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients’ Cohort

Induced Pluripotent Stem Cells Restore Function in a Human Cell Loss Model of Open-Angle Glaucoma

Molecular basis of glaucoma and its therapeutical analysis in Pakistan: an overview

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