Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Gemenetzi, M; Yang, Ya-Ting; Lotery, Andrew

doi:10.1038/eye.2011.309

Cited by 84 publications

(66 citation statements)

References 140 publications

(130 reference statements)

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“…Previous studies found that 13-47% of POAG patients have a positive family history (Gemenetzi et al, 2012;Mabuchi et al, 2012); nevertheless, there is no consensus regarding the method by which POAG is inherited. It has been acknowledged that the inheritance pattern can be autosomal dominant, autosomal recessive, and multifactorial (Allingham et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

Case Report Familial primary open-angle glaucoma: a case report

2014

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ABSTRACT. Primary open-angle glaucoma (POAG) is a disease that is often inherited, but the rules governing its inheritance are inconclusive. Herein, we report a case of POAG in a Chinese family. A 25-year-old female patient was referred to our department with progressive visual acuity decline in her left eye for the past 3 years. Ophthalmological examination supported our diagnosis of POAG in both eyes. We recorded the case history and clinical data of the proband and her family members and followed standard genetic study procedures. In this family, there were 8 individuals (4 male and 4 female) diagnosed with POAG, 2 of whom died. Genetic analysis revealed that the inheritance pattern of POAG in this family is autosomal dominant.

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Section: Discussionmentioning

confidence: 99%

Case Report Familial primary open-angle glaucoma: a case report

2014

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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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“…Furthermore, greater than 90 point alterations have been recognized universally in numerous racial groups. These kinds of mutations report for three to five percent of POAG cases and a higher percentage of Juvenile-onset of open angle glaucoma cases (just about six to thirty six %) (Challa, 2008;Gemenetzi et al, 2012). Primary open angle glaucoma (44.7 million cases widereaching) is measured more communal than primary angle closure glaucoma (15.7 million).…”

Section: Primary Open-angle Glaucoma (Poag)mentioning

confidence: 99%

“…Linkage examination have recognized 23 loci (the GLC1A, GLC1L, the 2p14,14q11,17p13,17q25, (Gemenetzi et al, 2012;Stone et al, 1997) for dissimilar kinds of glaucoma. Conversely, merely 4 genes (MYOC/TIGR, CYP1B1, optineurin [OPTN], and WD recap domain 36 (WDR36) (Monemi et al, 2005) have been recognized so far.…”

Section: Introductionmentioning

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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Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Cited by 84 publications

References 140 publications

Case Report Familial primary open-angle glaucoma: a case report

Case Report Familial primary open-angle glaucoma: a case report

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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