Results 21 to 30 of about 3,945 (185)

CRISPR-Cas9–based treatment of myocilin-associated glaucoma [PDF]

, 2018
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss worldwide, with elevated intraocular pressure (IOP) a major risk factor. Myocilin (MYOC) dominant gain-of-function mutations have been reported in ∼4% of POAG cases.
Bugge, Kevin, Clark, Abbot F., Fingert, John H., Jain, Ankur, Kasetti, Ramesh B., Ran, Fei, Searby, Charles C., Sharma, Tasneem P., Sheffield, Val C., Yan, Winston Xia, Zhang, Feng, Zode, Gulab   +11 more
core   +1 more source

Determinants of severity at presentation among young patients with early onset glaucoma

Indian Journal of Ophthalmology, 2013
Aim : The aim of this study was to evaluate the clinical, socio-economic, and demographic factors associated with the severity at presentation among juvenile primary open angle glaucoma (JOAG) patients.
Viney Gupta, Rajat M Srivastava, Ramanjit Sihota, Jasbir Kaur, Sandip Kumar, Digvijay Singh   +5 more
doaj   +1 more source

Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma

International Journal of Ophthalmology, 2013
AIM: To detect the mutations in two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese family with primary open angle glaucoma (POAG).METHODS: The family was composed of three members, the parents and a daughter.
Su-Ping Cai, Wen-Han Yu, Yun Wang, Hong-Bo Cheng, Xiao-Hong Li, Ning Fan, Yan Yin, Xiao-Min Zhou, Xu-Yang Liu   +8 more
doaj   +1 more source

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma [PDF]

, 2014
Author version made available in accordance with publisher copyright policy.Purpose: Predictive genetic testing of relatives of known myocilin (MYOC) gene mutation carriers is an appropriate strategy to identify individuals at risk for glaucoma. It is
Burdon, Kathryn Penelope, Craig, Jamie E, Glading, Jodi, Keane, Miriam Claire, Ridge, Bronwyn, Souzeau, Emmanuelle, Zhou, Tiger   +6 more
core   +1 more source

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. [PDF]

Journal of Medical Genetics, 1998
Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy and progressive loss of visual fields. A gene for juvenile onset primary open angle glaucoma JOAG) has recently been mapped to 1q21-31. Mutations in the trabecular meshwork induced glucocorticoid response gene (TIGR, also known as myocilin or
A M, Kennan, F C, Mansergh, J H, Fingert, T, Clark, C, Ayuso, P F, Kenna, P, Humphries, G J, Farrar   +7 more
openaire   +2 more sources

Biomechanical, ultrastructural, and electrophysiological characterization of the non-human primate experimental glaucoma model. [PDF]

, 2017
Laser-induced experimental glaucoma (ExGl) in non-human primates (NHPs) is a common animal model for ocular drug development. While many features of human hypertensive glaucoma are replicated in this model, structural and functional changes in the ...
Christian, Brian J, Eaton, J Seth, Gong, Haiyan, Miller, Paul E, Morgan, Joshua T, Murphy, Christopher J, Nork, T Michael, Raghunathan, VijayKrishna, Rasmussen, Carol A, Russell, Paul, Ver Hoeve, James N, Yang, Chen-Yuan Charlie   +11 more
core   +2 more sources

A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open-Angle Glaucoma Locus to 15q

Investigative Opthalmology & Visual Science, 2006
To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open-angle glaucoma (JOAG).A complete ophthalmic examination was conducted, and genomic DNA was obtained from 25 members of a Chinese family, of which eight were confirmed as having JOAG.
Dan Yi, Wang, Bao Jian, Fan, John K H, Chua, Pancy O S, Tam, Christopher K S, Leung, Dennis S C, Lam, Chi Pui, Pang   +6 more
openaire   +2 more sources

Association analysis of cigarette smoking with onset of primary open-angle glaucoma and glaucoma-related biometric parameters

BMC Ophthalmology, 2012
Background To date, studies on the role played by cigarette smoking in primary open-angle glaucoma (POAG) remains controversial. The current study evaluated cigarette smoking as a risk factor of POAG and its relationships with vertical cup-to-disc ratio (
Wang Degui, Huang Yuqiang, Huang Chukai, Wu Pengfei, Lin Jianwei, Zheng Yuqian, Peng Yi, Liang Yuanbo, Chen Jian-Huan, Zhang Mingzhi   +9 more
doaj   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +3 more sources

Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients.

Molecular biology research communications, 2018
In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited
Kaur, Avneet, Vanita, Vanita, Singh, JaiRup   +2 more
openaire   +2 more sources