関節眼症
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English Journal
- Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia.
- Alshahrani ST1, Ghazi NG2, Al-Rashaed S2.
- Clinical ophthalmology (Auckland, N.Z.).Clin Ophthalmol.2015 Dec 21;10:1-6. doi: 10.2147/OPTH.S91444. eCollection 2016.
- PURPOSE: To investigate the clinical findings and outcomes of rhegmatogenous retinal detachment (RRD) in Stickler syndrome on affected and fellow eyes that underwent prophylactic retinopexy.PATIENTS AND METHODS: Chart review of 70 eyes (62 patients). Incidence of RRD, postoperative visual acuity, an
- PMID 26730175
- Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome.
- de Wergifosse I1, Westhovens R1.
- The open rheumatology journal.Open Rheumatol J.2014 Dec 19;8:100-2. doi: 10.2174/1874312901408010100. eCollection 2014.
- A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the patient's mother had been diagnosed with rheumatoid arthritis and reported to have suffered from some locomotor problems. Careful clinical evaluat
- PMID 25598853
- Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
- Tran-Viet KN1, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.
- Molecular vision.Mol Vis.2013 Apr 5;19:759-66. Print 2013.
- PURPOSE: Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (
- PMID 23592912
Japanese Journal
- Thoracolumbar Spinal Abnormalities in Stickler Syndrome
- ROSE Peter S.,AHN Nicholas U.,LEVY Howard P.,AHN Uri M.,DAVIS Joie,LIBERFARB Ruth M.,NALLAMSHETTY Leelakrishna,SPONSELLER Paul D.,FRANCOMANO Clair A.
- Spine 26(4), 403-409, 2001-02-15
- NAID 10015783036
- Hereditary arthro-ophthalmopathy (Stickler syndrome) : a diagnosis to consider in familial premature osteoarthritis
- Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
Related Links
- arthro-ophthalmopathy ar·thro-oph·thal·mop·a·thy (är'thrō-ŏf'thəl-mŏp'ə-thē, -thāl-, -ŏp'-) n. Disease affecting the joints and eyes.
- arthro-ophthalmopathy /ar·thro-oph·thal·mop·a·thy/ (-of″thal-mop´ah-the) an association of degenerative joint disease and eye disease. ar·thro-oph·thal·mop·a·thy (är′thrō-ŏf′thəl-mŏp′ə-thē, -thăl-, -ŏp′-) n. Disease affecting the joints and ...
★リンクテーブル★
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- 英
- hereditary progressive arthro-ophthalmopathy
- 同
- 関節眼症 arthro-ophthalmopathy、スティックラー症候群 Stickler syndrome
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- 英
- arthro-ophthalmopathy
- 関
- 遺伝性進行性関節眼症
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遺伝性進行性関節眼症
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- 関
- eye disease、eye disorder