Sjögren-Larsson综合征眼底病变2例_Chinese Journal of Ocular Fundus Diseases

Authors：

朱瑞琳 , 尚琨 , 赵亮 ,  杨柳

北京大学第一医院眼科, 北京 100034;

Corresponding author：

杨柳, Email: liu_yang@bjmu.edu.cn

Keywords：

Sjögren-Larsson综合征; 鱼鳞病; 黄斑病变; 病例报告

DOI：

10.3760/cma.j.cn511434-20220704-00392

Video：

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Citation： 朱瑞琳, 尚琨, 赵亮, 杨柳. Sjögren-Larsson综合征眼底病变2例. Chinese Journal of Ocular Fundus Diseases, 2024, 40(3): 225-227. doi: 10.3760/cma.j.cn511434-20220704-00392 Copy

1.	Cho KH, Shim SH, Kim M. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome[J]. Clin Genet, 2018, 93(4): 721-730. DOI: 10.1111/cge.13058.
2.	Bindu PS. Sjogren-Larsson syndrome: mechanisms and management[J]. Appl Clin Genet, 2020, 13: 13-24. DOI: 10.2147/TACG.S193969.
3.	郗宵, 杨俊锋, 李和平, 等. ALDH3A2基因纯合突变致Sjogren-Larsson综合征1例并文献复习[J]. 中国实用儿科杂志, 2021, 36(1): 57-59. DOI: 10.19538/j.ek2021010613.Chi X, Yang JF, Li HP, et al. Sjogren-Larsson syndrome caused by homozygous mutation of ALDH3A2 gene: a case report and literature review[J]. Chinese Journal of Practical Pediatrics, 2021, 36(1): 57-59. DOI: 10.19538/j.ek2021010613.
4.	李清华, 唐北沙, 肖岚. Sjögren-Larsson综合征一例[J]. 中华医学遗传学杂志, 2005, 22(5): 568. DOI: 10.3760/j.issn:1003-9406.2005.05.049.Li QH, Tang BS, Xiao L. Sjögren-Larsson syndrome a case report[J]. Chin J Med Genet, 2005, 22(5): 568. DOI: 10.3760/j.issn:1003-9406.2005.05.049.
5.	张丽, 陆芬, 杜森杰, 等. Sjögren-Larsson综合征2家系遗传学与临床研究[J]. 中华实用儿科临床杂志, 2020, 35(24): 1902-1904. DOI: 10.3760/cma.j.cn101070-20200528-00906.Zhang L, Lu F, Du SJ, et al. Genetic and clinical study of 2 familial cases with Sjögren-Larsson syndrome[J]. Chin J Appl Clin Pediatr, 2020, 35(24): 1902-1904. DOI: 10.3760/cma.j.cn101070-20200528-00906.
6.	Liu YD, Lin HJ, Li CY, et al. Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report[J]. Int J Neurosci, 2020, 130(11): 1156-1160. DOI: 10.1080/00207454.2020.1716750.
7.	Cheng R, Liang J, Li Y, et al. Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese[J]. Clin Genet, 2020, 97(5): 770-778. DOI: 10.1111/cge.13704.
8.	张轶凡, 黄坚. 鱼鳞样红皮症-痉挛性截瘫-智力发育不全综合征(Sjogren-Larsson综合征) (附1例报道及文献分析)[J]. 齐齐哈尔医学院学报, 2013, 34(22): 3335-3336.Zhang YF, Huang J. Sjogren-Larsson syndrome (one case report and literature review)[J]. J Qiqihar Univ Med, 2013, 34(22): 3335-3336.
9.	赵宇, 韩洁, 朱威, 等. Sjögren-Larsson综合征1例[J]. 临床皮肤科杂志, 2012, 41(11): 685.Zhao Y, Han J, Zhu W, et al. Sjögren-Larsson syndrome a case report[J]. J Clin Dermatol, 2012, 41(11): 685.
10.	罗德儒, 雷观鲁. Sjögren-Larsson综合征一家三例报告[J]. 遗传与疾病, 1988, 5(3): 169.Luo DR, Lei GL. Sjögren-Larsson syndrome 3 familial cases report[J]. Heredity and Disease, 1988, 5(3): 169.
11.	娄彦, 尹娜. Sjögren-Larsson综合征一家系报告[J]. 遗传与疾病, 1988, 5(2): 4.Lou Y, Yi N. Sjögren-Larsson syndrome a family case report[J]. Heredity and Disease, 1988, 5(2): 4.
12.	钟冠群, 谢永昌, 万国忠, 等. Sjögren-Larsson综合征一例报告[J]. 中华医学杂志, 1983, 63(3): 183-184.Zhong GQ, Xie YC, Wan GZ, et al. Sjögren-Larsson syndrome a case report[J]. Natl Med J China, 1983, 63(3): 183-184.
13.	汪慧君, 张洁, 尹菁华, 等. Sjögren-Larsson综合征ALDH3A2基因突变研究[J]. 中华皮肤科杂志, 2013, 46(4): 231-234. DOI: 10.3760/cma.j.issn.0412-4030.2013.04.002.Wang HJ, Zhang J, Yin JH, et al. Mutation analysis of the ALDH3A2 gene in patients with Sjögren-Larsson syndrome[J]. Chin J Dermatol, 2013, 46(4): 231-234. DOI: 10.3760/cma.j.issn.0412-4030.2013.04.002.
14.	裴世澄, 瞿学栋, 张廷华. Söjgren-Larsson综合征一例报告[J]. 中华神经科杂志, 1996, 29(1): 22.Pei SC, Qu XD, Zhang TH. Sjögren-Larsson syndrome a case report[J]. Chin J Neurol, 1996, 29(1): 22.
15.	傅大林, 朱子阳, 顾威, 等. Sjögren-Larsson综合征1例遗传学与临床特征[J]. 中华实用儿科临床杂志, 2017, 32(8): 623-625. DOI: 10.3760/cma.j.issn.2095-428X.2017.08.016.Fu DL, Zhu ZY, Gu W, et al. The genetic and clinic characteristics of 1 case with Sjögren-Larsson syndrome[J]. Chin J Appl Clin Pediatr, 2017, 32(8): 623-625. DOI: 10.3760/cma.j.issn.2095-428X.2017.08.016.
16.	蒋亦秀, 付梦珠, 付学锋, 等. Sjögren-Larsson综合征一例[J]. 中华皮肤科杂志, 2009, 42(7): 503. DOI: 10.3760/cma.j.issn.0412-4030.2009.07.029.Jiang YX, Fu MZ, Fu XF, et al. Sjögren-Larsson syndrome a case report[J]. Chin J Dermatol, 2009, 42(7): 503. DOI: 10.3760/cma.j.issn.0412-4030.2009.07.029.
17.	Fouzdar-Jain S, Suh DW, Rizzo WB. Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype[J]. Ophthalmic Genet, 2019, 40(4): 298-308. DOI: 10.1080/13816810.2019.1660379.
18.	Al-Holou SN, Siefker E, Fouzdar-Jain S, et al. Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling[J]. Ophthalmic Genet, 2020, 41(4): 381-385. DOI: 10.1080/13816810.2020.1776340.
19.	Willemsen MA, Cruysberg JR, Rotteveel JJ, et al. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome[J]. Am J Ophthalmol, 2000, 130(6): 782-789. DOI: 10.1016/s0002-9394(00)00576-6.
20.	Nanda T, Kovach JL. Ophthalmic findings in late stage Sjogren-Larsson syndrome[J]. Retin Cases Brief Rep, 2019, 13(3): 251-254. DOI: 10.1097/ICB.0000000000000583.
21.	Staps P, Cruysberg JRM, Roeleveld N, et al. Retinal morphology in Sjögren-Larsson syndrome on OCT: from metabolic crystalline maculopathy to early-onset macular degeneration[J]. Ophthalmol Retina, 2019, 3(6): 500-509. DOI: 10.1016/j.oret.2019.01.023.
22.	Jack LS, Benson C, Sadiq MA, et al. Segmentation of retinal layers in Sjögren-Larsson syndrome[J]. Ophthalmology, 2015, 122(8): 1730-1732. DOI: 10.1016/j.ophtha.2015.02.003.
23.	van der Veen RL, Fuijkschot J, Willemsen MA, et al. Patients with Sjögren-Larsson syndrome lack macular pigment[J]. Ophthalmology, 2010, 117(5): 966-971. DOI: 10.1016/j.ophtha.2009.10.019.
24.	Nilsson SE, Jagell S. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome[J]. Br J Ophthalmol, 1987, 71(3): 224-226. DOI: 10.1136/bjo.71.3.224.

1. Cho KH, Shim SH, Kim M. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome[J]. Clin Genet, 2018, 93(4): 721-730. DOI: 10.1111/cge.13058.
2. Bindu PS. Sjogren-Larsson syndrome: mechanisms and management[J]. Appl Clin Genet, 2020, 13: 13-24. DOI: 10.2147/TACG.S193969.
3. 郗宵, 杨俊锋, 李和平, 等. ALDH3A2基因纯合突变致Sjogren-Larsson综合征1例并文献复习[J]. 中国实用儿科杂志, 2021, 36(1): 57-59. DOI: 10.19538/j.ek2021010613.Chi X, Yang JF, Li HP, et al. Sjogren-Larsson syndrome caused by homozygous mutation of ALDH3A2 gene: a case report and literature review[J]. Chinese Journal of Practical Pediatrics, 2021, 36(1): 57-59. DOI: 10.19538/j.ek2021010613.
4. 李清华, 唐北沙, 肖岚. Sjögren-Larsson综合征一例[J]. 中华医学遗传学杂志, 2005, 22(5): 568. DOI: 10.3760/j.issn:1003-9406.2005.05.049.Li QH, Tang BS, Xiao L. Sjögren-Larsson syndrome a case report[J]. Chin J Med Genet, 2005, 22(5): 568. DOI: 10.3760/j.issn:1003-9406.2005.05.049.
5. 张丽, 陆芬, 杜森杰, 等. Sjögren-Larsson综合征2家系遗传学与临床研究[J]. 中华实用儿科临床杂志, 2020, 35(24): 1902-1904. DOI: 10.3760/cma.j.cn101070-20200528-00906.Zhang L, Lu F, Du SJ, et al. Genetic and clinical study of 2 familial cases with Sjögren-Larsson syndrome[J]. Chin J Appl Clin Pediatr, 2020, 35(24): 1902-1904. DOI: 10.3760/cma.j.cn101070-20200528-00906.
6. Liu YD, Lin HJ, Li CY, et al. Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report[J]. Int J Neurosci, 2020, 130(11): 1156-1160. DOI: 10.1080/00207454.2020.1716750.
7. Cheng R, Liang J, Li Y, et al. Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese[J]. Clin Genet, 2020, 97(5): 770-778. DOI: 10.1111/cge.13704.
8. 张轶凡, 黄坚. 鱼鳞样红皮症-痉挛性截瘫-智力发育不全综合征(Sjogren-Larsson综合征) (附1例报道及文献分析)[J]. 齐齐哈尔医学院学报, 2013, 34(22): 3335-3336.Zhang YF, Huang J. Sjogren-Larsson syndrome (one case report and literature review)[J]. J Qiqihar Univ Med, 2013, 34(22): 3335-3336.
9. 赵宇, 韩洁, 朱威, 等. Sjögren-Larsson综合征1例[J]. 临床皮肤科杂志, 2012, 41(11): 685.Zhao Y, Han J, Zhu W, et al. Sjögren-Larsson syndrome a case report[J]. J Clin Dermatol, 2012, 41(11): 685.
10. 罗德儒, 雷观鲁. Sjögren-Larsson综合征一家三例报告[J]. 遗传与疾病, 1988, 5(3): 169.Luo DR, Lei GL. Sjögren-Larsson syndrome 3 familial cases report[J]. Heredity and Disease, 1988, 5(3): 169.
11. 娄彦, 尹娜. Sjögren-Larsson综合征一家系报告[J]. 遗传与疾病, 1988, 5(2): 4.Lou Y, Yi N. Sjögren-Larsson syndrome a family case report[J]. Heredity and Disease, 1988, 5(2): 4.
12. 钟冠群, 谢永昌, 万国忠, 等. Sjögren-Larsson综合征一例报告[J]. 中华医学杂志, 1983, 63(3): 183-184.Zhong GQ, Xie YC, Wan GZ, et al. Sjögren-Larsson syndrome a case report[J]. Natl Med J China, 1983, 63(3): 183-184.
13. 汪慧君, 张洁, 尹菁华, 等. Sjögren-Larsson综合征ALDH3A2基因突变研究[J]. 中华皮肤科杂志, 2013, 46(4): 231-234. DOI: 10.3760/cma.j.issn.0412-4030.2013.04.002.Wang HJ, Zhang J, Yin JH, et al. Mutation analysis of the ALDH3A2 gene in patients with Sjögren-Larsson syndrome[J]. Chin J Dermatol, 2013, 46(4): 231-234. DOI: 10.3760/cma.j.issn.0412-4030.2013.04.002.
14. 裴世澄, 瞿学栋, 张廷华. Söjgren-Larsson综合征一例报告[J]. 中华神经科杂志, 1996, 29(1): 22.Pei SC, Qu XD, Zhang TH. Sjögren-Larsson syndrome a case report[J]. Chin J Neurol, 1996, 29(1): 22.
15. 傅大林, 朱子阳, 顾威, 等. Sjögren-Larsson综合征1例遗传学与临床特征[J]. 中华实用儿科临床杂志, 2017, 32(8): 623-625. DOI: 10.3760/cma.j.issn.2095-428X.2017.08.016.Fu DL, Zhu ZY, Gu W, et al. The genetic and clinic characteristics of 1 case with Sjögren-Larsson syndrome[J]. Chin J Appl Clin Pediatr, 2017, 32(8): 623-625. DOI: 10.3760/cma.j.issn.2095-428X.2017.08.016.
16. 蒋亦秀, 付梦珠, 付学锋, 等. Sjögren-Larsson综合征一例[J]. 中华皮肤科杂志, 2009, 42(7): 503. DOI: 10.3760/cma.j.issn.0412-4030.2009.07.029.Jiang YX, Fu MZ, Fu XF, et al. Sjögren-Larsson syndrome a case report[J]. Chin J Dermatol, 2009, 42(7): 503. DOI: 10.3760/cma.j.issn.0412-4030.2009.07.029.
17. Fouzdar-Jain S, Suh DW, Rizzo WB. Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype[J]. Ophthalmic Genet, 2019, 40(4): 298-308. DOI: 10.1080/13816810.2019.1660379.
18. Al-Holou SN, Siefker E, Fouzdar-Jain S, et al. Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling[J]. Ophthalmic Genet, 2020, 41(4): 381-385. DOI: 10.1080/13816810.2020.1776340.
19. Willemsen MA, Cruysberg JR, Rotteveel JJ, et al. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome[J]. Am J Ophthalmol, 2000, 130(6): 782-789. DOI: 10.1016/s0002-9394(00)00576-6.
20. Nanda T, Kovach JL. Ophthalmic findings in late stage Sjogren-Larsson syndrome[J]. Retin Cases Brief Rep, 2019, 13(3): 251-254. DOI: 10.1097/ICB.0000000000000583.
21. Staps P, Cruysberg JRM, Roeleveld N, et al. Retinal morphology in Sjögren-Larsson syndrome on OCT: from metabolic crystalline maculopathy to early-onset macular degeneration[J]. Ophthalmol Retina, 2019, 3(6): 500-509. DOI: 10.1016/j.oret.2019.01.023.
22. Jack LS, Benson C, Sadiq MA, et al. Segmentation of retinal layers in Sjögren-Larsson syndrome[J]. Ophthalmology, 2015, 122(8): 1730-1732. DOI: 10.1016/j.ophtha.2015.02.003.
23. van der Veen RL, Fuijkschot J, Willemsen MA, et al. Patients with Sjögren-Larsson syndrome lack macular pigment[J]. Ophthalmology, 2010, 117(5): 966-971. DOI: 10.1016/j.ophtha.2009.10.019.
24. Nilsson SE, Jagell S. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome[J]. Br J Ophthalmol, 1987, 71(3): 224-226. DOI: 10.1136/bjo.71.3.224.

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Sjögren-Larsson综合征眼底病变2例

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