文献詳細
連載 知っておきたい小児眼科の最新知識・3
文献概要
point
1)鎌状網膜襞は家族性滲出性硝子体網膜症を念頭に置く
2)Stickler症候群は裂孔原性網膜剝離の鑑別診断として重要である
3)Stickler症候群の全身所見は見逃されやすい
4)先天網膜分離症はERGやOCTによって総合的に診断する
1)鎌状網膜襞は家族性滲出性硝子体網膜症を念頭に置く
2)Stickler症候群は裂孔原性網膜剝離の鑑別診断として重要である
3)Stickler症候群の全身所見は見逃されやすい
4)先天網膜分離症はERGやOCTによって総合的に診断する
参考文献
1)Criswick VG, Schepens CL:Familial exudative vitreoretinopathy. Am J Ophtalmol 68:578-594, 1969
2)Robitaille JM, Wallace K, Zheng B et al:Phenotypic overlap of familial exudative vitreoretinopathy(FEVR)with persistent fetal vasculature(PFV)caused by FZD4 mutations in two distinct pedigrees. Ophthalmic Genet 30:23-30, 2009
3)Kondo H, Kusaka S, Yoshinaga A et al:Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity. Mol Vis 19:476-485, 2013
4)Stickler GB, Belan PG, Farrell FJ et al:Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 40:433-455, 1965
5)Fincham GS, Pasea L, Carroll C et al:Prevention of retinal detachment in stickler syndrome:the cambridge prophylactic cryotherapy protocol. Ophthalmology 121:1588-1597, 2014
6)George NDL, Yates JRW, Moore AT:X-linked retinoschisis. Br J Ophthalmol 79:697-702, 1995
7)Bowles K, Cukras C, Turriff A et al:X-linked retinoschisis:RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Invest Ophthalmol Vis Sci 52:9250-9256, 2011
8)Gurbaxani A, Wei M, Succar T et al:Acetazolamide in retinoschisis:a prospective study. Ophthalmology 121:802-803, 2014
9)Ikeda F, Iida T, Kishi S:Resolution of retinoschisis after vitreous surgery in X-linked retinoschisis. Ophthalmology 115:718-722, 2008
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