2021
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye
Partnership T, Li Z, Wang Z, Lee M, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams S, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe S, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim K, Meah W, Soo H, Chen X, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou E, Mikropoulos D, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur M, Husain R, Perera S, Álvarez L, García M, González-Iglesias H, Cueto A, Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasım B, Astakhov Y, Astakhov S, Akopov E, Giessl A, Mardin C, Hellerbrand C, Bailey J, Igo R, Haines J, Edward D, Heegaard S, Davila S, Tan P, Kang J, Pasquale L, Kruse F, Reis A, Carmichael T, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas A, Coca-Prados M, Foo J, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs J, Pasutto F, Schlötzer-Schrehardt U, Ho Y, Aung T, Tam W, Khor C. Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. JAMA 2021, 325: 753-764. PMID: 33620406, PMCID: PMC7903258, DOI: 10.1001/jama.2021.0507.Peer-Reviewed Original ResearchConceptsExfoliation syndromeValidation cohortDiscovery cohortAnterior chamberImpair protein functionFirst validation cohortSecond validation cohortSlit-lamp examinationCase-control studyAnterior segment structuresCauses of glaucomaCiliary body tissueSecondary outcomesPrimary outcomeLamp examinationSystemic disordersIrreversible blindnessMAIN OUTCOMEIndependent cohortExfoliation materialProtein-changing variantsSyndromeClinical implicationsCohortStudy participants
2003
Inhibition of 11β-hydroxysteroid dehydrogenase type 1 lowers intraocular pressure in patients with ocular hypertension
Rauz S, Cheung C, Wood P, Coca-Prados M, Walker E, Murray P, Stewart P. Inhibition of 11β-hydroxysteroid dehydrogenase type 1 lowers intraocular pressure in patients with ocular hypertension. QJM 2003, 96: 481-490. PMID: 12881590, DOI: 10.1093/qjmed/hcg085.Peer-Reviewed Original ResearchMeSH Keywords11-beta-Hydroxysteroid Dehydrogenase Type 2AgedAqueous HumorCarbenoxoloneCortisoneDouble-Blind MethodEnzyme InhibitorsFemaleHumansHydrocortisoneHydroxysteroid DehydrogenasesIntraocular PressureMaleMineralocorticoid Receptor AntagonistsOcular HypertensionProspective StudiesReceptors, GlucocorticoidConceptsPrimary open-angle glaucomaIntraocular pressureCiliary body tissueOcular hypertensionHealthy volunteersCiliary epitheliumPlacebo-controlled studyOpen-angle glaucomaUrinary cortisol metabolitesAge-matched controlsHuman anterior segmentsDehydrogenase type 1Aqueous humor productionTopical inhibitorsBody tissuesPOAG patientsProspective studyClinical trialsMineralocorticoid receptorCBX administrationAnterior segmentNovel treatmentsPatientsGreater fallCortisone concentrations