Wolfram綜合征一例_Chinese Journal of Ocular Fundus Diseases

Authors：

劉堃 , 王雯秋 , 馮競仰 , 孫健 ,  孫曉東

上海交通大學附屬上海市第一人民醫院眼科上海市眼視覺及光醫學工程研究中心上海市眼底病重點實驗室 200080;

Corresponding?author：

孫曉東, Email: xdsun@sjtu.edu.cn

Keywords：

Wolfram綜合征; 視神經萎縮，遺傳; 病例報告

DOI：

10.3760/cma.j.cn511434-20191011-00327

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Citation： 劉堃, 王雯秋, 馮競仰, 孫健, 孫曉東. Wolfram綜合征一例. Chinese Journal of Ocular Fundus Diseases, 2020, 36(11): 892-894. doi: 10.3760/cma.j.cn511434-20191011-00327 Copy

1.	Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome[J]. Lancet, 1995, 346(8988): 1458-1463. DOI: 10.1016/s0140-6736(95)92473-6.
2.	Pallotta MT, Tascini G, Crispoldi R, et al. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives[J]. J Transl Med, 2019, 17(1): 238. DOI: 10.1186/s12967-019-1993-1.
3.	Takeda K, Inoue H, Tanizawa Y, et al. WFS1(Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain[J]. Hum Mol Genet, 2001, 10(5): 477-484. DOI: 10.1093/hmg/10.5.477.
4.	Yamamoto H, Hofmann S, Hamasaki DI, et al. Wolfram syndrome 1(WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey[J]. Exp Eye Res, 2006, 83(5): 1303-1306. DOI: 10.1016/j.exer.2006.06.010.
5.	Cagalinec M, Liiv M, Hodurova Z, et al. Role of mitochondrial dynamics in neuronal development: mechanism for wolfram syndrome[J/OL]. PLoS Biol, 2016, 14(7): 1002511[2016-07-19]. http://europepmc.org/article/MED/27434582. DOI: 10.1371/journal.pbio.1002511.
6.	Hoekel J, Narayanan A, Rutlin J, et al. Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression[J/OL]. BMJ Open Ophthalmol 2018, 3(1): 000081[2018-01-18]. https://bmjophth.bmj.com/content/3/1/e000081. DOI: 10.1136/bmjophth-2017-000081.
7.	Grenier J, Meunier I, Daien V, et al. WFS1 in optic neuropathies: mutation findings in nonsyndromic optic atrophy and assessment of clinical severity[J]. Ophthalmology, 2016, 123(9): 1989-1998. DOI: 10.1016/j.ophtha.2016.05.036.
8.	Hoekel J, Chisholm SA, Al-Lozi A, et al. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome[J]. J AAPOS, 2014, 18(5): 461-465. DOI: 10.1016/j.jaapos.2014.07.162.
9.	Abreu D, Urano F. Current landscape of treatments for wolfram syndrome[J]. Trends Pharmacol Sci, 2019, 40(10): 711-714. DOI: 10.1016/j.tips.2019.07.011.
10.	Bababeygy SR, Wang MY, Khaderi KR, et al. Visual improvement with the use of idebenone in the treatment of Wolfram syndrome[J]. J Neuroophthalmol, 2012, 32(4): 386-389. DOI: 10.1097/WNO.0b013e318273c102.
11.	Lu S, Kanekura K, Hara T, et al. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome[J]. Proc Natl Acad Sci USA, 2014, 111(49): 5292-5301. DOI: 10.1073/pnas.1421055111.
12.	Urano F. Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease[J]. Diabetes, 2014, 63(3): 844-846. DOI: 10.2337/db13-1809.

1. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome[J]. Lancet, 1995, 346(8988): 1458-1463. DOI: 10.1016/s0140-6736(95)92473-6.
2. Pallotta MT, Tascini G, Crispoldi R, et al. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives[J]. J Transl Med, 2019, 17(1): 238. DOI: 10.1186/s12967-019-1993-1.
3. Takeda K, Inoue H, Tanizawa Y, et al. WFS1(Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain[J]. Hum Mol Genet, 2001, 10(5): 477-484. DOI: 10.1093/hmg/10.5.477.
4. Yamamoto H, Hofmann S, Hamasaki DI, et al. Wolfram syndrome 1(WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey[J]. Exp Eye Res, 2006, 83(5): 1303-1306. DOI: 10.1016/j.exer.2006.06.010.
5. Cagalinec M, Liiv M, Hodurova Z, et al. Role of mitochondrial dynamics in neuronal development: mechanism for wolfram syndrome[J/OL]. PLoS Biol, 2016, 14(7): 1002511[2016-07-19]. http://europepmc.org/article/MED/27434582. DOI: 10.1371/journal.pbio.1002511.
6. Hoekel J, Narayanan A, Rutlin J, et al. Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression[J/OL]. BMJ Open Ophthalmol 2018, 3(1): 000081[2018-01-18]. https://bmjophth.bmj.com/content/3/1/e000081. DOI: 10.1136/bmjophth-2017-000081.
7. Grenier J, Meunier I, Daien V, et al. WFS1 in optic neuropathies: mutation findings in nonsyndromic optic atrophy and assessment of clinical severity[J]. Ophthalmology, 2016, 123(9): 1989-1998. DOI: 10.1016/j.ophtha.2016.05.036.
8. Hoekel J, Chisholm SA, Al-Lozi A, et al. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome[J]. J AAPOS, 2014, 18(5): 461-465. DOI: 10.1016/j.jaapos.2014.07.162.
9. Abreu D, Urano F. Current landscape of treatments for wolfram syndrome[J]. Trends Pharmacol Sci, 2019, 40(10): 711-714. DOI: 10.1016/j.tips.2019.07.011.
10. Bababeygy SR, Wang MY, Khaderi KR, et al. Visual improvement with the use of idebenone in the treatment of Wolfram syndrome[J]. J Neuroophthalmol, 2012, 32(4): 386-389. DOI: 10.1097/WNO.0b013e318273c102.
11. Lu S, Kanekura K, Hara T, et al. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome[J]. Proc Natl Acad Sci USA, 2014, 111(49): 5292-5301. DOI: 10.1073/pnas.1421055111.
12. Urano F. Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease[J]. Diabetes, 2014, 63(3): 844-846. DOI: 10.2337/db13-1809.

Previous Article
眼眶部針灸致視網膜出血一例
Next Article
急性特發性黃斑病變一例

Chinese Journal of Ocular Fundus Diseases

Wolfram綜合征一例

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content