参考文献/References:
[1] MAYER A K,ROHRSCHNEIDER K,STROM T M,GLCKLE N,KOHL S,WISSINGER B,et al.Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation[J].Eur J Hum Genet,2016,24(3):459-462.
[2] LITTINK K W,KOENEKOOP R K,LI V D B,COLLIN R W,MORUZ L,VELTMAN J A,et al.Homozygosity mapping in patients with cone-rod dystrophy:novel mutations and clinical characterizations[J].Invest Ophthmol Vis Sci,2010,51(11):5943-5951.
[3] LI C M,PRESLEY J B,ZHANG X,DASHTI N,CHUNG B H,MEDEIROS N E,et al.Retina expresses microsomal triglyceride transfer protein:implications for age-related maculopathy[J].J Lipid Res,2005,46(4):628-640.
[4] BARABAS P,LIU A,XING W,CHEN C K,TONG Z,WATT C B,et al.Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration[J].P Natl Acad Sci USA,2013,110(13):5181-5186.
[5] LI M D,HE T,SUN X W,YIN X B,LI G L.Characteristics of serum lipids changes in primary retinitis pigmentosa patients[J].Rec Adv Ophthalmol,2014,34(3):236-238.
李孟达,何婷,孙晓伟,殷晓贝,李根林.原发性视网膜色素变性患者血清脂蛋白含量的变化[J].眼科新进展,2014,34(3):236-238.
[6] MICHAELIDES M,HUNT D M,MOORE A T.The cone dysfunction syndromes[J].Br J Ophthalmol,2016,100(1):115-121.
[7] Chinese Adult Dyslipidemia Prevention Guidelines Revision Joint Committee.Chinese adult guidelines for prevention and treatment of dyslipidemia (revised edition 2016)[J].Chin Circul J,2016,31(10):7-28.
中国成人血脂异常防治指南修订联合委员会.中国成人血脂异常防治指南(2016年修订版)[J].中国循环杂志,2016,31(10):7-28.
[8] ZHANG W B,YANG L.Hypertensive retinopathy and lipids[J].Int Rev Ophthalmol,2016,40(2):90-93.
张文博,杨柳.高血压视网膜病变与血脂[J].国际眼科纵览,2016,40(2):90-93.
[9] ALAPATI A,GOETZ K,SUK J,NAVANI M,ALTAROUTI A,JAYASUNDERA T,et al.Molecular diagnostic testing by eyeGENE:analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss[J].Invest Ophthalmol Vis Sci,2014,55(9):5510-5521.
[10] WANG Y,GUO L,CAI S P,DAI M,YANG Q,YU W,et al.Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa[J].PLoS One,2012,7(5):e33673.
[11] PIKULEVA I A,CURCIO C A.Cholesterol in the retina:the best is yet to come[J].Prog Retin Eye Res,2014,41(1):64-89.
[12] RODRGUEZ I R,LARRAYOZ I M.Cholesterol oxidation in the retina:implications of 7KCh formation in chronic inflammation and age-related macular degeneration[J].J Lipid Res,2010,51(10):2847.
[13] FLIESLER S J,BRETILLON L.The ins and outs of cholesterol in the vertebrate retina[J].J Lipid Res,2010,51(12):3399-3413.
[14] LI M D,YIN X B,HE T,SUN X W,LI G L.Changes of serum lipids in patients with Bietti crystalline dystrophy[J].Chin J Exp Ophthalmol,2015,33(1):47-50.
李孟达,殷晓贝,何婷,孙晓伟,李根林.结晶样视网膜色素变性患者血脂浓度的变化[J].中华实验眼科杂志,2015,33(1):47-50.
[15] TSERENTSOODOL N,GORDIYENKO N V,PASCUAL I,LEE J W,FLIESLER S J,RODRIGUEZ I R.Intraretinal lipid transport is dependent on high density lipoprotein-like particles and class B scavenger receptors[J].Mol Vis,2006,12(12):1319-1333.
[16] ZHENG W,REEM R E,OMAROVA S,HUANG S,DIPATRE P L,CHARVET C D,et al.Spatial distribution of the pathways of cholesterol homeostasis in human retina[J].PLoS One,2012,7(5):e37926.
[17] WANG W,CONNOR S L,JOHNSON E J,KLEIN M L,HUGHES S,CONNOR W E.Effect of dietary lutein and zeaxanthin on plasma carotenoids and their transport in lipoproteins in age-related macular degeneration[J].Am J Clin Nutr,2007,85(3):762-769.
[18] BURGESS S,DAVEY S G.Mendelian randomization implicates high-density lipoprotein cholesterol-associated mechanisms in etiology of age-related macular degeneration[J].Ophthalmology,2017,124(8):1165-1174.
[19] PETROVI C ′ M A,VELJKOVI C ′ B,JANICIJEVI C ′ K,VULOVI C ′ T S.Correlation between metabolic controls and changes in retina in patients having diabetes[J].Medicinski Pregled,2014,67(1-2):49-54.
[20] GUPTA R,GUPTA S,SUKHARAMWALA D,VASHI J,GAHLOT A.Evaluation of hypertensive retinopathy in patients of essential hypertension with high serum lipids[J].Indian J Dermatol Ve,2013,6(2):165-169.
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