Weill-Marchesani综合征继发青光眼的治疗进展

doi:10.3969/j.issn.2095-9400.2019.01.016

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摘要 Weill-Marchesani综合征（WMS）是一种罕见遗传病，提出该病80余年来，全世界都对其诊断和治疗进行了多方面零星的探讨。其在眼部的一个主要表现是易引起继发性青光眼，在对继发性青光眼的预防性治疗和控制性治疗中，药物、手术以及基因治疗等各方面都取得了一定的进展，但是仍未形成规范和体系。笔者对国内外报道过的治疗WMS的各种方法进行系统综述，给临床医师提供一个全面的诊治参考。

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	张旭红
	张婷婷
	梁远波

关键词 ： Weill-Marchesani综合征, 继发性青光眼, 治疗, 综述

基金资助:浙江省高层次卫生创新人才计划项目（2016025）。

通讯作者: 梁远波，教授，主任医师，Email：yuanboliang@126.com。

作者简介: 张旭红（1992-），女，浙江兰溪人，硕士生。

链接本文:

https://xb.wmu.edu.cn/CN/ 10.3969/j.issn.2095-9400.2019.01.016 或 https://xb.wmu.edu.cn/CN/Y2019/V49/I1/66

[1] WEILL G. Ectopie des crystallins et malformations genera-les[J]. Ann Oculist, 1932, 169: 21-44.
[2] MARCHESANI O. Brachhydaktylie und Angeborene Kugellinse als systemerkrankung[J]. Klin Monatsbl Augenheilkd, 1939, 103: 392-406.
[3] 李凤鸣. 眼科全书[M]. 北京: 人民卫生出版社, 1996: 1542.
[4] HARASYMOWYCZ P, WILSON R. Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome[J]. J Pediatr Ophthalmol Strabismus, 2004, 41(5): 295-299.
[5] LIM S H, SON J H, CHA S C. Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features[J]. Int Ophthalmol, 2016, 36(6): 921-924.
[6] 齐越, 陈虹, 唐炘. Weill-Marchesani综合征继发青光眼手术治疗的新观察[J]. 眼科, 2011, 20(1): 44-49.
[7] WILLI M, KUT L, COTLIER E. Pupillary-block glaucoma in the Marchesani syndrome[J]. Arch Ophthalmol, 1973, 90 (6): 504-508.
[8] RITCH R, SOLOMON L D. Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with Weill-Marchesani syndrome[J]. J Glaucoma, 1992, 1(4): 243-247.
[9] EVEREKLIOGLU C, TURKOZ Y, CALIS M, et al. Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome[J]. Mediators Inflamm, 2004, 13(3): 165-170.
[10] ASAOKA R, KATO M, SUAMI M, et al. Chronic angle closure glaucoma secondary to frail zonular fibres and sphero-phakia[J]. Acta Ophthalmol Scand, 2003, 81(5): 533-535.
[11] EL KETTANI A, HAMDANI M, RAIS L, et al. Weill Marchesani syndrome. Report of a case[J]. J Fr Ophtalmol, 2001, 24(9): 944-948.
[12] KULKARNI M L, VENKATARAMANA V, SURESHKUMAR C, et al. Weill-Marchesani syndrome[J]. Indian Pediatr, 1995, 32(8): 923-926.
[13] HUSSAIN N, JEYABALADEVAN S, MACAPAGAL M, et al. Weill-Marchesani syndrome: displaced lens, displaced pupil, displaced diagnosis[J]. Acta Ophthalmologica, 2016, 94(256): 1-6.
[14] CROSS H E. Differential diagnosis and treatment of dislocated lenses[J]. Birth Defects Orig Artic Ser, 1976, 12(3): 335-346.
[15] HALPERT M, BENEZRA D. Surgery of the hereditary subluxated lens in children[J]. Ophthalmology, 1996, 103(4): 681-686.
[16] PROBERT L A. Spherophakia with brachydactyly; comparison with Marfan’s syndrome[J]. Am J Ophthalmol, 1953, 36 (11): 1571-1574.
[17] JENSEN A D, CROSS H E, PATON D. Ocular complications in the Weill-Marchesani syndrome[J]. Am J Ophthalmol, 1974, 77(2): 261-269.
[18] MCGAVIC J S. Weill-Marchesani syndrome. Brachymorphism and ectopia lentis[J]. Am J Ophthalmol, 1966, 62(5): 820-823.
[19] KANSKI J J. Clinical ophthalmology: A systematic appro-ach[M]. 5th ed. UK: Butterworth Heinemann, 2003: 189-191.
[20] CHU B S. Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis[J]. Clin Exp Optom, 2006, 89(2): 95-99.
[21] GIORDANO N, SENESI M, BATTISTI E, et al. Weill-Marchesani syndrome: report of an unusual case[J]. Calcif Tissue Int, 1997, 60(4): 358-360.
[22] EVEREKLIOGLU C, HEPSEN IF, ER H. Weill-Marchesani syndrome in three generations[J]. Eye (Lond), 1999, 13(Pt 6): 773-777.
[23] CABOT F, RUGGERI M, SAHEB H, et al. Extended-depth spectral-domain optical coherence tomography imaging of the crystalline lens in Weill-Marchesani-like syndrome[J]. JCRS Online Case Rep, 2014, 2(4): 92-95.
[24] RAZEGHINEJAD M R, HOSSEINI H, NAMAZI N. Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome[J]. J Cataract Refract Surg, 2009, 35(6): 1026-1032.
[25] ROSZKOWSKA A M, ARAGONA P. Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy[J]. Open Ophthalmol J, 2011, 5: 48-50.
[26] RAZEGHINEJAD M R, SAFAVIAN H. Central corneal thickness in patients with Weill-Marchesani syndrome[J]. Am J Ophthalmol, 2006, 142(3): 507-508.
[27] GUO H, WU X, CAI K, et al. Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review[J]. BMC Ophthalmol, 2015, 15: 3.
[28] 刘德杰, 杨育勇. 探讨Weill-Marchesani综合征继发青光眼的手术治疗[J]. 中华眼外伤职业眼病杂志, 2016, 38(4): 295-298.
[29] TAYLOR J N. Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction[J]. Aust N Z J Ophthalmol, 1996, 24(3): 275-278.
[30] CHUNG J L, KIM S W, KIM J H, et al. A case of Weill-Marchesani syndrome with inversion of chromosome 15[J]. Korean J Ophthalmol, 2007, 21(4): 255-260.
[31] GALLAGHER K, SALAM T, SIN B, et al. Retinal vascular tortuosity in a patient with weill-marchesani syndrome[J]. Case Rep Ophthalmol Med, 2011, 2011: 952543.
[32] GROESSL S A, ANDERSON C J. Capsular tension ring in a patient with Weill-Marchesani syndrome[J]. J Cataract Refract Surg, 1998, 24(8): 1164-1165.
[33] BURAKGAZI A Z, OZBEK Z, RAPUANO C J, et al. Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome[J]. Cornea, 2006, 25(3): 361-363.
[34] SENTHIL S, RAO H L, HOANG N T, et al. Glaucoma in microspherophakia: presenting features and treatment out-comes[J]. J Glaucoma, 2014, 23(4): 262-267.
[35] VAN DE WOESTIJNE P C, DERK-JAN T H A, BOGERS A J. Two patients with Weill-Marchesani syndrome and mitral stenosis[J]. Interact Cardiovasc Thorac Surg, 2004, 3(3): 484-485.
[36] MANDAL S K, MONDAL S S, MANI S, et al. Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis[J]. Indian J Med Sci, 2010, 64(3): 140-143.
[37] KARABIYIK L. Airway management of a patient with Weill-Marchesani syndrome[J]. J Clin Anesth, 2003, 15(3):214-216.
[38] ARORA V, BAJWA S J, KAUR J. Look alike drug labels : A worrying issue[J]. Indian J Anaesth, 2011, 55(4): 428.
[39] FAIVRE L, DOLLFUS H, LYONNET S, et al. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome[J]. Am J Med Genet A, 2003, 123A(2): 204-207.
[40] FAIVRE L, GORLIN R J, WIRTZ M K, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome[J]. J Med Genet, 2003, 40(1): 34-36.
[41] DAGONEAU N, BENOIST-LASSELIN C, HUBER C, et al. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome[J]. Am J Hum Genet, 2004, 75(5): 801-806.
[42] MORALES J, AL-SHARIF L, KHALIL D S, et al. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature[J]. Am J Hum Genet, 2009, 85(5): 558-568.
[43] HAJI-SEYED-JAVADI R, JELODARI-MAMAGHANI S,
PAYLAKHI S H, et al. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix[J]. Hum Mutat, 2012, 33(8): 1182-1187.
[44] 崔云, 马良, 尚艳峰, 等. FBN1基因新突变导致常染色体显性遗传眼病晶状体脱位一家系三例分析[J]. 中华眼视光学与视觉科学杂志, 2015, 17(7): 416-419.
[45] JONES G C. ADAMTS proteinases: potential therapeutic targets?[J]. Curr Pharm Biotechnol, 2006, 7(1): 25-31.