Variants in the PRPF8 Gene are Associated with Glaucoma
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Neurobiology"
DOI: 10.1007/s12035-017-0673-5
Abstract: Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small… read more here.
Keywords: poag; variants prpf8; associated glaucoma; gene associated ... See more keywords
Papillomacular retinoschisis associated with glaucoma: Response to topical carbonic anhydrase inhibitor
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2020.100741
Abstract: Purpose We report the clinical courses of two patients with papillomacular retinoschisis in eyes with advanced glaucomatous optic neuropathy. Observations In case 1, a 67-year-old woman was diagnosed with papillomacular retinoschisis and normal tension glaucoma… read more here.
Keywords: associated glaucoma; glaucoma response; retinoschisis; papillomacular retinoschisis ... See more keywords
Trifunctional High-Throughput Screen Identifies Promising Scaffold To Inhibit Grp94 and Treat Myocilin-Associated Glaucoma.
Sign Up to like & getrecommendations! Published in 2018 at "ACS chemical biology"
DOI: 10.1021/acschembio.7b01083
Abstract: Gain-of-function mutations within the olfactomedin (OLF) domain of myocilin result in its toxic intracellular accumulation and hasten the onset of open-angle glaucoma. The absence of myocilin does not cause disease; therefore, strategies aimed at eliminating… read more here.
Keywords: myocilin; associated glaucoma; biology; myocilin associated ... See more keywords
Sturge-Weber syndrome-associated glaucoma and intraocular osseous metaplasia: a unique complicated case
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-223983
Abstract: A 30-year-old European man was admitted to our centre complaining about severe pain of the right eye (OD) and right part of the face, redness and no vision of the OD. He had an 18-year… read more here.
Keywords: syndrome associated; sturge weber; associated glaucoma; osseous metaplasia ... See more keywords