Genetic Etiologies of Glaucoma

Wiggs, Janey L.

doi:10.1001/archopht.125.1.30

Cited by 180 publications

(128 citation statements)

References 115 publications

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“…5 A family history of POAG is a well-established risk factor, indicating that specific genetic variants may contribute to pathogenesis, and a multifactorial etiology is suggested. 6 In some large pedigrees, though, glaucoma segregates as a Mendelian trait with reduced penetrance and variable expressivity, but most cases are sporadic.…”

Section: Introductionmentioning

confidence: 99%

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

et al. 2011

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Section: Introductionmentioning

confidence: 99%

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

et al. 2011

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“…2 To date, a total of 14 chromosomal loci have been mapped and designated as GLC1A to GLC1N. 3,4 Three candidate genes have been identified that include myocilin as the GLC1A, 5,6 optineurin as the GLC1E, 7,8 and WDR36 as the GLC1G 9 gene.…”

mentioning

confidence: 99%

Differential Effects of Myocilin and Optineurin, Two Glaucoma Genes, on Neurite Outgrowth

Koga

Shen

Park

et al. 2010

The American Journal of Pathology

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Myocilin and optineurin are two genes linked to glaucoma , a major blinding disease characterized by progressive loss of retinal ganglion cells (RGCs) and their axons. To investigate the effects of force-expressed wild-type and mutant myocilin and optineurin on neurite outgrowth in neuronal cells , we transiently transfected cells with pEGFP-N1 (mock control) as well as myocilin and optineurin plasmids including pMYOC WT -EGFP, pMYOC P370L -EGFP, pMYOC 1-367 -EGFP, pOPTN WT -EGFP , and pOPTN E50K -EGFP. PC12 cells transfected with pEGFP-N1 produced , as anticipated, long and extensive neuritis on nerve growth factor induction. The neurite length in those cells transfected with myocilin constructs was shortened and the number of neurites was also reduced. A similar inhibitory effect on neurite outgrowth was also elicited by myocilin transfection in RGC5 cells. In contrast , neither transfection of the optineurin constructs pOPTN WT -EGFP and pOPTN E50K -EGFP nor the myocilin and optineurin small-interfering RNA treatments induced significant alterations in neurite outgrowth. Transfection with the wild-type optineurin construct , but not with that of the wild-type myocilin, increased the apoptotic activity in cells. These results demonstrated that the two glaucoma genes , myocilin and optineurin, exhibited differential effects on neurite outgrowth. They may contribute to the development of neurodegenerative glaucoma via distinct mechanisms.

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“…It is the supreme ordinary form analyzed in all populaces investigated and is particularly predominant (~4.2%) in individuals with African lineage. 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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Genetic Etiologies of Glaucoma

Cited by 180 publications

References 115 publications

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Differential Effects of Myocilin and Optineurin, Two Glaucoma Genes, on Neurite Outgrowth

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

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