臨床眼科76巻13号

2022年12月発行

特集 ゲノム解析の「今」と「これから」—解析結果は眼科診療に何をもたらすか

中心性漿液性脈絡網膜症とゲノム

著者： 細田祥勝¹

所属機関： ¹大阪赤十字病院眼科

ページ範囲：P.1665 - P.1671

●CSCを含めたパキコロイド関連疾患は，AMDとは遺伝的に異なる。

●これまでAMDとされてきた疾患群の中には，パキコロイド関連疾患が多く含まれている。

●パキコロイドの定義と分類は今後重要な課題である。

参考文献

1）Mrejen S, Balaratnasingam C, Kaden TR et al：Long-term visual outcomes and causes of vision loss in chronic central serous chorioretinopathy. Ophthalmology 126：576-588, 2019

2）Pang CE, Freund KB：Pachychoroid neovasculopathy. Retina 35：1-9, 2015

3）Miyake M, Ooto S, Yamashiro K et al：Pachychoroid neovasculopathy and age-related macular degeneration. Sci Rep 5：16204, 2015

4）Hata M, Yamashiro K, Ooto S et al：Intraocular vascular endothelial growth factor levels in pachychoroid neovasculopathy and neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci 58：292-298, 2017

5）Lehmann M, Bousquet E, Beydoun T et al：Pachychoroid：An Inherited condition? Retina 35：10-16, 2015

6）Cheung CMG, Lee WK, Koizumi H et al：Pachychoroid disease. Eye（Lond）33：14-33, 2019

7）Klein RJ, Zeiss C, Chew EY et al：Complement factor H polymorphism in age-related macular degeneration. Science 308：385-389, 2005

8）Miki A, Kondo N, Yanagisawa S et al：Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy. Ophthalmology 121：1067-1072, 2014

9）Hosoda Y, Yoshikawa M, Miyake M et al：CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. Proc Natl Acad Sci USA 115：6261-6266, 2018

10）De Jong EK, Breukink MB, Schellevis RL et al：Chronic central serous chorioretinopathy is associated with genetic variants implicated in age-related macular degeneration. Ophthalmology 122：562-570, 2015

11）Hosoda Y, Miyake M, Schellevis RL et al：Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy. Commun Biol 2：468, 2019

12）Sun Y, Li S, Li H et al：TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14-POLR2B-IGFBP7 rs1713985 was found associated with age-related macular degeneration in a Chinese population. Invest Ophthalmol Vis Sci 54：8199-8203, 2013

13）Miki A, Sakurada Y, Tanaka K et al：Genome-wide association study to identify a new susceptibility locus for central serous chorioretinopathy in the japanese population. Invest Opthalmol Vis Sci 59：5542-5547, 2018

14）Schubert C, Pryds A, Zeng S et al：Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy. Hum Mutat 35：859-867, 2014

15）Breukink MB, Schellevis RL, Boon CJ et al：Genomic copy number variations of the complement component C4B gene are associated with chronic central serous chorioretinopathy. Invest Ophthalmol Vis Sci 56：5608-5613, 2015

16）van Dijk EHC, Schellevis RL, van Bergen MGJM et al：Association of a haplotype in the NR3C2 gene, encoding the mineralocorticoid receptor, with chronic central serous chorioretinopathy. JAMA Ophthalmol 135：446-451, 2017

17）Mohabati D, Schellevis RL, van Dijk EHC et al：Genetic risk factors in acute central serous chorioretinopathy. Retina 39：2303-2310, 2019

18）Mori Y, Miyake M, Hosoda Y et al：Genome-wide survival analysis for macular neovascularization development in central serous chorioretinopathy revealed shared genetic susceptibility with polypoidal choroidal vasculopathy. Ophthalmology 129：1034-1042, 2022

19）Kim YT, Kang SW, Bai KH：Choroidal thickness in both eyes of patients with unilaterally active central serous chorioretinopathy. Eye（Lond）25：1635-1640, 2011

20）Told R, Palkovits S, Haslacher H et al：Alterations of choroidal blood flow regulation in young healthy subjects with complement factor H polymorphism. PLoS One 8：e60424, 2013

21）Hosoda Y, Yamashiro K, Miyake M et al：Predictive genes for the prognosis of central serous chorioretinopathy. Ophthalmol Retina 3：985-992, 2019

22）Arakawa S, Takahashi A, Ashikawa K et al：Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet 43：1001-1004, 2011

23）Fritsche LG, Igl W, Bailey JNC et al：A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet 48：134-143, 2016

24）Reiter JF, Alexander J, Rodaway A et al：Gata5 is required for the development of the heart and endoderm in zebrafish. Genes Dev 13：2983-2995, 1999

25）Messaoudi S, He Y, Gutsol A et al：Endothelial Gata5 transcription factor regulates blood pressure. Nat Commun 6：8835, 2015