Outcome of macular hole surgery in Bietti crystalline dystrophy

Purpose: to describe a 42-year-old man,a known case of bietti crystalline dystrophy who underwent surgery for unilateral full thickness macular hole. case report: clinical features,color fundus photographs,and optical coherence tomography,electroretinography,and electrooculography findings of the patient are reported. his visual acuity improved from counting fingers to 20/50 after pars plana deep vitrectomy with internal limiting membrane (ilm) peeling and gas injection. conclusion: macular hole can occur in bietti crystalline dystrophy and the post-surgical outcome is good. nourinia ramin 1 ophthalmic research center,shahid beheshti university of medical sciences,tehran dehghan mohammad 2 ophthalmic research center; ophthalmic epidemiology research center,shahid beheshti university of medical sciences,tehran fekri sahba 3 ophthalmic research center,shahid beheshti university of medical sciences,tehran li a,jiao x,munier fl,schorderet df,yao w,iwata f,et al. bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene cyp4v2. am j hum genet 2004;74:817-826. lee ky,koh ah,aung t,yong vh,yeung k,ang cl,et al. characterization of bietti crystalline dystrophy patients with cyp4v2 mutations. invest ophthalmol vis sci 2005;46:3812-3816. mataftsi a,zografos l,milla e,secretan m,munier fl. bietti's crystalline corneoretinal dystrophy: a cross-sectional study. retina 2004;24:416-426. jiao x,munier fl,iwata f,hayakawa m,kanai a,lee j,et al. genetic linkage of bietti crystallin corneoretinal dystrophy to chromosome 4q35. am j hum genet 2000;67:1309-1313. garcía-garcía gp,lópez-garrido mp,martínez-rubio m,moya-moya ma,belmonte-martínez j,escribano j. genotype-phenotype analysis of bietti crystalline dystrophy in a family with the cyp4v2 ile111thr mutation. cornea 2013;32:1002-1008. xiao x,mai g,li s,guo x,zhang q. identification of cyp4v2 mutation in 21 families and overview of mutation spectrum in bietti crystalline corneoretinal dystrophy. biochem biophys res commun 2011;409:181-186. gupta b,parvizi s,mohamed md. bietti crystalline dystrophy and choroidal neovascularisation. int ophthalmol 2011;31:59-61. broadhead gk,chang aa. acetazolamide for cystoid macular oedema in bietti crystalline retinal dystrophy. korean j ophthalmol 2014;28:189-191. ji sx,yin xl,he xg,yuan rd,ye j,liu sz,et al. bietti crystalline dystrophy with bilateral macular holes. retin cases brief rep 2009;3:361-363. saatci ao,yaman a,berk at,soylev mf. macular hole formation in bietti's crystalline retinopathy. a case report. ophthalmic genet 1997;18:139141. giusti c,forte r,vingolo em. clinical pathogenesis of macular holes in patients affected by retinitis pigmentosa. eur rev med pharmacol sci 2002;6:45-48. jin zb,gan dk,xu gz,nao-i n. macular hole formation in patients with retinitis pigmentosa and prognosis of pars plana vitrectomy. retina 2008;28:610-614. ratra d,raval v. surgery for macular holes associated with unusual concomitant pathologies. oman j ophthalmol 2013;6:112. © 2017 journal of ophthalmic and vision research published by wolters kluwer - medknow.