Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma

Sohn, Sunyoung; Hur, Wonhee; Choi, Young Ran; Chung, Yun Shin; Ki, Chang‐Seok; Kee, Changwon

doi:10.1136/bjo.2009.158261

Cited by 13 publications

(4 citation statements)

References 16 publications

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“…Cells have been treated with a number of steroids including dexamethasone, triamcinolone, prednisolone, cortisol, progesterone, cortexolone, methyltestosterone, fluorometholone, and rimexolone (for examples see (Clark et al, 1994; Raghunathan et al, 2015; Sharma et al, 2014; Sohn et al, 2010)).…”

Section: Ex-vivo Model Systemsmentioning

confidence: 99%

Model systems for the study of steroid-induced IOP elevation

Rybkin

Gerometta

Fridman

et al. 2017

Experimental Eye Research

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Steroid-induced IOP elevation affects a significant number of patients. It results from a decrease in outflow facility of the aqueous humor. To understand the pathophysiology of this condition a number of model systems have been created. These include ex-vivo cell and organ cultures as well as in-vivo animal models in organisms ranging from rodents to primates. These model systems can be used to investigate specific aspects of steroid-induced IOP elevation. This brief review summarizes the strengths and limitations of the various model systems and provides examples of where these systems have been successfully used to advance our understanding of steroid-induced IOP elevation.

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Section: Ex-vivo Model Systemsmentioning

confidence: 99%

Model systems for the study of steroid-induced IOP elevation

Rybkin

Gerometta

Fridman

et al. 2017

Experimental Eye Research

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“…A more than 100-fold increase in myocilin gene expression has been reported after exposure to dexamethasone [121] . However, a recent study of human trabecular meshwork cells that were cultured in the presence of ophthalmic steroids did not show that myocilin gene overexpression is associated with an increase in IOP [122] . More studies are needed to explain the variations in the myocilin gene and their role in steroid-induced glaucoma.…”

Section: Gene Expressionmentioning

confidence: 99%

Steroid-Induced Iatrogenic Glaucoma

Lj²

2011

Ophthalmic Res

218

160

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Steroids in susceptible individuals can cause a clinical condition similar to primary open-angle glaucoma. Five percent of the population are high steroid responders and develop an intraocular pressure (IOP) elevation of more than 15 mm Hg above baseline. IOP elevation may occur as early as 1 day to as late as 12 weeks after intravitreal triamcinolone in 20–65% of patients. On average, 75% of eyes with steroid implants require IOP-lowering therapy at some point within 3 years of follow-up. The exact mechanism of steroid-induced glaucoma is not totally understood, but decreased trabecular meshwork outflow is regarded as the main cause of IOP elevation. High-risk patients who receive steroids should be monitored closely and if they develop elevated IOP, steroids with lower potency or steroid-sparing agents should be used. The IOP usually returns to normal within 2–4 weeks after stopping the steroid. About 1–5% of patients do not respond to medical therapy and need surgery. Trabeculectomy, trabeculotomy, shunt surgery, and cyclodestructive procedures are among the methods employed. Removal of residual sub-Tenon or intravitreal steroids may help hasten the resolution of the steroid response. Early results with anecortave acetate, an analog of cortisol acetate with antiangiogenic activity, in controlling IOP have been promising.

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“…Supporting the findings of the present study, Rezaie et al ( 10 ) suggested that mutations in OPTN may be responsible for 16.7% of the hereditary forms of NTG and that there is an additional risk factor of 13.6% in familial and sporadic cases. Furthermore, Sohn et al ( 35 ) demonstrated that the MYOC gene itself was not associated with OAG, including POAG, NTG and SIG. Their results do not support the hypothesis that MYOC induction may be linked to IOP variation and that promoter variants of MYOC may be a risk factor for the pathogenesis of OAG.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

Park

Kim

Park

et al. 2016

Molecular Medicine Reports

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To investigate the underlying genetic influences of primary glaucoma in Korea, molecular analysis was performed in 112 sporadic cases, and results compared with healthy controls. The myocilin (MYOC) and optineurin (OPTN) genes were directly sequenced in 112 unrelated patients, including 17 with primary open-angle glaucoma, 19 with juvenile open-angle glaucoma, and 76 with normal tension glaucoma. Healthy unrelated Korean individuals (n=100) were used as the non-selected population control. A total of three MYOC and four OPTN variants potentially associated with primary glaucoma were identified in 4 and 18 patients, respectively. A novel variant of MYOC, p.Leu255Pro, was predicted to be potentially pathogenic by in silico analysis. Another, p.Thr353Ile, has been previously reported. These two missense variants were detected in patients with a family history of glaucoma. Combined heterozygous variants p.[Thr123=;Ile288=] were identified in 2 of 112 (2%) patients but not in healthy controls. Among OPTN variants, a novel variant p.Arg271Cys was identified. Homozygous p.[Thr34=;Thr34=] (4/112, 4%), homozygous p.[Met98Lys;Met98Lys] (4/112, 4%), or combined heterozygous p.[Thr34=;Arg545Gln] (9/112, 8%) was significantly associated with the development of primary glaucoma [odds ratio (OR)=8.768, 95% confidence interval (CI)=1.972–38.988; relative risk=1.818, 95% CI=1.473–2.244; P=0.001]. The present study provides insight into the genetic or haplotype variants of MYOC and OPTN genes contributing to primary glaucoma. Haplotype variants identified in the present study may be regarded as potential contributing factors of primary glaucoma in Korea. Further studies, including those on additional genes, are required to elucidate the underlying pathogenic mechanism using a larger cohort to provide additional statistical power.

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Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma

Cited by 13 publications

References 16 publications

Model systems for the study of steroid-induced IOP elevation

Model systems for the study of steroid-induced IOP elevation

Steroid-Induced Iatrogenic Glaucoma

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

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