Clinical features and research progress in autosomal recessive Best disease_Chinese Journal of Ocular Fundus Diseases

Authors：

Liu Juejun ,  Chen Changzheng

Eye Center, People’s Hospital of Wuhan University, Wuhan 430060, China;

Corresponding author：

Chen Changzheng, Email: whuchenchzh@163.com

Keywords：

Best disease; Disease attributes; DNA mutational analysis; Review

DOI：

10.3760/cma.j.issn.1005-1015.2020.01.017

Video：

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Autosomal recessive Best disease (ARB) is a rare clinical fundus disease caused by BEST1 mutation. The critical features of ARB are the presence of multifocal subretinal yellowish lesions, which corresponding to the hyperfluorescent spots on FAF, scattered over the posterior pole of the retina, absent of typical vitelliform lesions in the macula. Imaging of OCT is often manifested as subretinal or intraretinal fluid, and cystoid macular edema, and hypereflective focus at RPE level. EOG shows an absent or severely reduced light rise (decreased value of Arden), which often accompanied by reduction and delay of the rod and cone ERG. Some patients with ARB show hyperopia, short axial length and shallow anterior chambers, with a corresponding high incidence of angle-closure glaucoma. Though there isn't any effective therapeutic methods of ARB at present, prevention and treatment for its complications such as angle-closure glaucoma and choroidal neovascularization should be considered. Present study about ARB mainly focus on some retrospective cases, and ARB is often misdiagnosed with Best vitelliform macular dystrophy, central serous chorioretinopathy and other fundus diseases in clinic. A detailed understanding of the clinical features and genetic characteristics of ARB might be helpful in clinical diagnosis and treatment. Research with larger sample size are expected to further investigate the different stages of ARB and its developing process, the potential pathological mechanism, the relationship between genotype and phenotype, so as to improve the understanding of the disease.

Citation： Liu Juejun, Chen Changzheng. Clinical features and research progress in autosomal recessive Best disease. Chinese Journal of Ocular Fundus Diseases, 2020, 36(1): 70-74. doi: 10.3760/cma.j.issn.1005-1015.2020.01.017 Copy

1.	Marmorstein AD, Marmorstein LY, Rayborn M, et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium[J]. Proc Natl Acad Sci USA, 2000, 97(23): 12758-12763. DOI: 10.1073/pnas.220402097.
2.	Johnson AA, Guziewicz KE, Lee CJ, et al. Bestrophin 1 and retinal disease[J]. Prog Retin Eye Res, 2017, 58: 45-69. DOI: 10.1016/j.preteyeres.2017.01.006.
3.	Burgess R, Millar ID, Leroy BP, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans[J]. Am J Hum Genet, 2008, 82(1): 19-31. DOI: 10.1016/j.ajhg.2007.08.004.
4.	Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options[J]. Ophthalmology, 2013, 120(4): 809-820. DOI: 10.1016/j.ophtha.2012.09.057.
5.	Nakanishi A, Ueno S, Hayashi T, et al. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort[J]. Am J Ophthalmol, 2016, 168: 86-94. DOI: 10.1016/j.ajo.2016.04.023.
6.	Tian L, Sun T, Xu K, et al. Screening of BEST1 gene in a Chinese cohort with Best vitelliform macular dystrophy or autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2017, 58(9): 3366-3375. DOI: 10.1167/iovs.17-21999.
7.	李倩, 彭晓燕, 王霄娜, 等. 隐性遗传性卵黄样营养不良临床及视网膜影像学特点分析[J]. 中华眼科杂志, 2018, 54(4): 263-269. DOI: 10.3760/cma.j.issn.0412-4081.2018.04.007.Li Q, Peng XY, Wang XN, et al. Analysis on the clinical and retinal imaging characteristics of autosomal recessive bestrophinopathy[J]. Chin J Ophthalmol, 2018, 54(4): 263-269. DOI: 10.3760/cma.j.issn.0412-4081.2018.04.007.
8.	Khan KN, Islam F, Holder GE, et al. Normal electrooculography in Best disease and autosomal recessive bestrophinopathy[J]. Retina, 2018, 38(2): 379-386. DOI: 10.1097/IAE.0000000000001523.
9.	Kalevar A, Chen JJ, McDonald HR, et al. Autosomal recessive bestrophinopathy: multimodal imaging update[J]. Retin Cases Brief Rep, 2018, 12 Suppl 1: S51-54. DOI: 10.1097/ICB.0000000000000707.
10.	Marmorstein AD, Johnson AA, Bachman LA, et al. Mutant Best1 expression and impaired phagocytosis in an iPSC model of autosomal recessive bestrophinopathy[J]. Sci Rep, 2018, 8(1): 44-87. DOI: 10.1038/s41598-018-21651-z.
11.	Fung AT, Yzer S, Goldberg N, et al. New Best1 mutations in autosomal recessive bestrophinopathy[J]. Retina, 2015, 35(4): 773-782. DOI: 10.1097/IAE.0000000000000387.
12.	Madhusudhan S, Hussain A, Sahni JN. Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy[J]. Digit J Ophthalmol, 2013, 19(4): 59-63. DOI: 10.5693/djo.02.2013.09.001.
13.	Hardin JS, Schaefer GB, Sallam AB, et al. A unique case series of autosomal recessive bestrop hinopathy exhibiting multigenerational inheritance[J]. Ophthalmic Genet, 2017, 38(6): 570-574. DOI: 10.1080/13816810.2017.1318926.
14.	Wivestad Jansson R, Berland S, Bredrup C, et al. Biallelic mutations in the BEST1 gene: additional families with autosomal recessive bestrophinopathy[J]. Ophthalmic Genet, 2016, 37(2): 183-193. DOI: 10.3109/13816810.2015.1020558.
15.	Milenkovic VM, Rivera A, Horling F, et al. Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane[J]. J Biol Chem, 2007, 282(2): 1313-1321. DOI: 10.1074/jbc.M607383200.
16.	Lee CS, Jun I, Choi SI, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2015, 56(13): 8141-8150. DOI: 10.1167/iovs.15-18168.
17.	Khan KN, Mahroo OA, Islam F, et al. Functional and anatomical outcomes of choroidal neovascul arization complicating Best1-related retinopathy[J]. Retina, 2017, 37(7): 1360-1370. DOI: 10.1097/IAE.0000000000001357.
18.	Milenkovic A, Milenkovic VM, Wetzel CH, et al. BEST1 protein stability and degradation pathways differ between autoso mal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes[J]. Hum Mol Genet, 2018, 27(9): 1630-1641. DOI: 10.1093/hmg/ddy070.
19.	Sun H, Tsunenari T, Yau KW, et al. The vitelliform macular dystrophy protein defines a new family of chloride channels[J]. Proc Natl Acad Sci USA, 2002, 99(6): 4008-4013. DOI: 10.1073/pnas.052692999.
20.	Hartzell C, Qu Z, Putzier I, et al. Looking chloride channels straight in the eye: bestrophins, lipofus-cinosis, and retinal degeneration[J]. Physiology (Bethesda), 2005, 20: 292-302. DOI: 10.1152/physiol.00021.2005.
21.	Davidson AE, Millar ID, Burgess-Mullan R, et al. Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2011, 52(6): 3730-3736. DOI: 10.1167/iovs.10-6707.
22.	姜春晖, 王文吉, 徐格致. 黄斑部先天性视网膜劈裂的光相干断层扫描观察[J]. 中华眼底病杂志, 2005, 21(2): 93-96. DOI: 10.3760/j.issn.1005-1015.2005.02.008.Jiang CH, Wang WJ, Xu GZ, et al. Optic coherence tomography for congenital juvenile macular retinoschisis[J]. Chin J Ocul Fundus Dis, 2005, 21(2): 93-96. DOI: 10.3760/j.issn.1005-1015.2005.02.008.
23.	Boon CJ, Klevering BJ, Leroy BP, et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene[J]. Prog Retin Eye Res, 2009, 28(3): 187-205. DOI: 10.1016/j.preteyeres.2009.04.002.
24.	Crowley C, Paterson R, Lamey T, et al. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma[J]. Doc Ophthalmol, 2014, 129(1): 57-63. DOI: 10.1007/s10633-014-9444-z.
25.	李文生, 郑钦象, 孔繁圣, 等. 遗传性视网膜疾病的基因研究进展[J]. 中华眼科杂志, 2010, 46(2): 186-192. DOI: 10.3760/cma.j.issn.0412-4081.2010.02.020.Li WS, Zheng QX, Kong FS, et al. Progress in gene studies of hereditary retinal diseases[J]. Chin J Ophthalmol, 2010, 46(2): 186-192. DOI: 10.3760/cma.j.issn.0412-4081.2010.02.020.
26.	Johnson AA, Bachman LA, Gilles BJ, et al. Autosomal recessive bestrophinopathy is not associated with the loss of bestrophin-1 anion channel function in a patient with a novel BEST1 mutation[J]. Invest Ophthalmol Vis Sci, 2015, 56(8): 4619-4630. DOI: 10.1167/iovs.15-16910.
27.	郭敬丽, 张勇进. 成人型卵黄样黄斑营养不良的临床特征及研究进展[J]. 中华眼底病杂志, 2017, 33(4): 431-434. DOI: 10.3760/cma.j.issn.1005-1015.2017.04.029.Guo JL, Zhang YJ. Clinical characteristics of adult-onset foveomacular vitelliform dystrophy[J]. Chin J Ocul Fundus Dis, 2017, 33(4): 431-434. DOI: 10.3760/cma.j.issn.1005-1015.2017.04.029.
28.	何颖, 戴旭锋, 张华. Stargardt病基因治疗研究现状与进展[J]. 中华眼底病杂志, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.He Y, Dai XF, Zhang H, et al. The status and progress in gene therapy study of Stargardt disease[J]. Chin J Ocul Fundus Dis, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.
29.	李杨, 马翔, 卢建民. 诱导多能干细胞分化成视网膜色素上皮细胞的研究进展[J]. 中华眼底病杂志, 2015, 31(2): 212-214. DOI: 10.3760/cma.j.issn.1005-1015.2015.02.031.Li Y, Ma X, Lu JM. Research progress in inducing pluripotent stem cells to differentiate into retinal pigment epithelial cells[J]. Chin J Ocul Fundus Dis, 2015, 31(2): 212-214. DOI: 10.3760/cma.j.issn.1005-1015.2015.02.031.
30.	Kamao H, Mandai M, Okamoto S, et al. Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application[J]. Stem Cell Rep, 2014, 2(2): 205-218. DOI: 10.1016/j.stemcr.2013.12.007.

1. Marmorstein AD, Marmorstein LY, Rayborn M, et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium[J]. Proc Natl Acad Sci USA, 2000, 97(23): 12758-12763. DOI: 10.1073/pnas.220402097.
2. Johnson AA, Guziewicz KE, Lee CJ, et al. Bestrophin 1 and retinal disease[J]. Prog Retin Eye Res, 2017, 58: 45-69. DOI: 10.1016/j.preteyeres.2017.01.006.
3. Burgess R, Millar ID, Leroy BP, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans[J]. Am J Hum Genet, 2008, 82(1): 19-31. DOI: 10.1016/j.ajhg.2007.08.004.
4. Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options[J]. Ophthalmology, 2013, 120(4): 809-820. DOI: 10.1016/j.ophtha.2012.09.057.
5. Nakanishi A, Ueno S, Hayashi T, et al. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort[J]. Am J Ophthalmol, 2016, 168: 86-94. DOI: 10.1016/j.ajo.2016.04.023.
6. Tian L, Sun T, Xu K, et al. Screening of BEST1 gene in a Chinese cohort with Best vitelliform macular dystrophy or autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2017, 58(9): 3366-3375. DOI: 10.1167/iovs.17-21999.
7. 李倩, 彭晓燕, 王霄娜, 等. 隐性遗传性卵黄样营养不良临床及视网膜影像学特点分析[J]. 中华眼科杂志, 2018, 54(4): 263-269. DOI: 10.3760/cma.j.issn.0412-4081.2018.04.007.Li Q, Peng XY, Wang XN, et al. Analysis on the clinical and retinal imaging characteristics of autosomal recessive bestrophinopathy[J]. Chin J Ophthalmol, 2018, 54(4): 263-269. DOI: 10.3760/cma.j.issn.0412-4081.2018.04.007.
8. Khan KN, Islam F, Holder GE, et al. Normal electrooculography in Best disease and autosomal recessive bestrophinopathy[J]. Retina, 2018, 38(2): 379-386. DOI: 10.1097/IAE.0000000000001523.
9. Kalevar A, Chen JJ, McDonald HR, et al. Autosomal recessive bestrophinopathy: multimodal imaging update[J]. Retin Cases Brief Rep, 2018, 12 Suppl 1: S51-54. DOI: 10.1097/ICB.0000000000000707.
10. Marmorstein AD, Johnson AA, Bachman LA, et al. Mutant Best1 expression and impaired phagocytosis in an iPSC model of autosomal recessive bestrophinopathy[J]. Sci Rep, 2018, 8(1): 44-87. DOI: 10.1038/s41598-018-21651-z.
11. Fung AT, Yzer S, Goldberg N, et al. New Best1 mutations in autosomal recessive bestrophinopathy[J]. Retina, 2015, 35(4): 773-782. DOI: 10.1097/IAE.0000000000000387.
12. Madhusudhan S, Hussain A, Sahni JN. Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy[J]. Digit J Ophthalmol, 2013, 19(4): 59-63. DOI: 10.5693/djo.02.2013.09.001.
13. Hardin JS, Schaefer GB, Sallam AB, et al. A unique case series of autosomal recessive bestrop hinopathy exhibiting multigenerational inheritance[J]. Ophthalmic Genet, 2017, 38(6): 570-574. DOI: 10.1080/13816810.2017.1318926.
14. Wivestad Jansson R, Berland S, Bredrup C, et al. Biallelic mutations in the BEST1 gene: additional families with autosomal recessive bestrophinopathy[J]. Ophthalmic Genet, 2016, 37(2): 183-193. DOI: 10.3109/13816810.2015.1020558.
15. Milenkovic VM, Rivera A, Horling F, et al. Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane[J]. J Biol Chem, 2007, 282(2): 1313-1321. DOI: 10.1074/jbc.M607383200.
16. Lee CS, Jun I, Choi SI, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2015, 56(13): 8141-8150. DOI: 10.1167/iovs.15-18168.
17. Khan KN, Mahroo OA, Islam F, et al. Functional and anatomical outcomes of choroidal neovascul arization complicating Best1-related retinopathy[J]. Retina, 2017, 37(7): 1360-1370. DOI: 10.1097/IAE.0000000000001357.
18. Milenkovic A, Milenkovic VM, Wetzel CH, et al. BEST1 protein stability and degradation pathways differ between autoso mal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes[J]. Hum Mol Genet, 2018, 27(9): 1630-1641. DOI: 10.1093/hmg/ddy070.
19. Sun H, Tsunenari T, Yau KW, et al. The vitelliform macular dystrophy protein defines a new family of chloride channels[J]. Proc Natl Acad Sci USA, 2002, 99(6): 4008-4013. DOI: 10.1073/pnas.052692999.
20. Hartzell C, Qu Z, Putzier I, et al. Looking chloride channels straight in the eye: bestrophins, lipofus-cinosis, and retinal degeneration[J]. Physiology (Bethesda), 2005, 20: 292-302. DOI: 10.1152/physiol.00021.2005.
21. Davidson AE, Millar ID, Burgess-Mullan R, et al. Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2011, 52(6): 3730-3736. DOI: 10.1167/iovs.10-6707.
22. 姜春晖, 王文吉, 徐格致. 黄斑部先天性视网膜劈裂的光相干断层扫描观察[J]. 中华眼底病杂志, 2005, 21(2): 93-96. DOI: 10.3760/j.issn.1005-1015.2005.02.008.Jiang CH, Wang WJ, Xu GZ, et al. Optic coherence tomography for congenital juvenile macular retinoschisis[J]. Chin J Ocul Fundus Dis, 2005, 21(2): 93-96. DOI: 10.3760/j.issn.1005-1015.2005.02.008.
23. Boon CJ, Klevering BJ, Leroy BP, et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene[J]. Prog Retin Eye Res, 2009, 28(3): 187-205. DOI: 10.1016/j.preteyeres.2009.04.002.
24. Crowley C, Paterson R, Lamey T, et al. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma[J]. Doc Ophthalmol, 2014, 129(1): 57-63. DOI: 10.1007/s10633-014-9444-z.
25. 李文生, 郑钦象, 孔繁圣, 等. 遗传性视网膜疾病的基因研究进展[J]. 中华眼科杂志, 2010, 46(2): 186-192. DOI: 10.3760/cma.j.issn.0412-4081.2010.02.020.Li WS, Zheng QX, Kong FS, et al. Progress in gene studies of hereditary retinal diseases[J]. Chin J Ophthalmol, 2010, 46(2): 186-192. DOI: 10.3760/cma.j.issn.0412-4081.2010.02.020.
26. Johnson AA, Bachman LA, Gilles BJ, et al. Autosomal recessive bestrophinopathy is not associated with the loss of bestrophin-1 anion channel function in a patient with a novel BEST1 mutation[J]. Invest Ophthalmol Vis Sci, 2015, 56(8): 4619-4630. DOI: 10.1167/iovs.15-16910.
27. 郭敬丽, 张勇进. 成人型卵黄样黄斑营养不良的临床特征及研究进展[J]. 中华眼底病杂志, 2017, 33(4): 431-434. DOI: 10.3760/cma.j.issn.1005-1015.2017.04.029.Guo JL, Zhang YJ. Clinical characteristics of adult-onset foveomacular vitelliform dystrophy[J]. Chin J Ocul Fundus Dis, 2017, 33(4): 431-434. DOI: 10.3760/cma.j.issn.1005-1015.2017.04.029.
28. 何颖, 戴旭锋, 张华. Stargardt病基因治疗研究现状与进展[J]. 中华眼底病杂志, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.He Y, Dai XF, Zhang H, et al. The status and progress in gene therapy study of Stargardt disease[J]. Chin J Ocul Fundus Dis, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.
29. 李杨, 马翔, 卢建民. 诱导多能干细胞分化成视网膜色素上皮细胞的研究进展[J]. 中华眼底病杂志, 2015, 31(2): 212-214. DOI: 10.3760/cma.j.issn.1005-1015.2015.02.031.Li Y, Ma X, Lu JM. Research progress in inducing pluripotent stem cells to differentiate into retinal pigment epithelial cells[J]. Chin J Ocul Fundus Dis, 2015, 31(2): 212-214. DOI: 10.3760/cma.j.issn.1005-1015.2015.02.031.
30. Kamao H, Mandai M, Okamoto S, et al. Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application[J]. Stem Cell Rep, 2014, 2(2): 205-218. DOI: 10.1016/j.stemcr.2013.12.007.

Chinese Journal of Ocular Fundus Diseases

Clinical features and research progress in autosomal recessive Best disease

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