以眼底病變為首發癥狀的Revesz綜合征1例_Chinese Journal of Ocular Fundus Diseases

Authors：

崔玉嬌 ¹ , 劉國華 ¹ , 于文貞 ² ,  黃靜 ¹

1. ;
2. ;

Corresponding?author：

黃靜, Email: hjing510@163.com

Keywords：

病例報告; 視網膜滲出; Revesz綜合征; TINF2基因

DOI：

10.3760/cma.j.cn511434-20210907-00492

Video：

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Citation： 崔玉嬌, 劉國華, 于文貞, 黃靜. 以眼底病變為首發癥狀的Revesz綜合征1例. Chinese Journal of Ocular Fundus Diseases, 2022, 38(8): 700-701. doi: 10.3760/cma.j.cn511434-20210907-00492 Copy

1.	McElnea EM, van der Spek N, Smith O, et al. Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity[J]. J AAPOS, 2013, 17(6): 634-636. DOI: 10.1016/j.jaapos.2013.07.016.
2.	Finzi A, Morara M, Pichi F, et al. Vitreous hemorrhage secondary to retinaI vasculopathy in a patient with dyskeratosis congenita[J]. Int Ophthalmol, 2014, 34(4): 923-926. DOI: 10.10071s10792-013.9867-7.
3.	Glousker G, Touzot F, Revy P, et al. Unraveling the pathogenesis of hoyeraal-hreidarsson syndrome, a complex telomere biology disorder[J]. Br J Haematol, 2015, 170(4): 457-471. DOI: 10.1111/bjh.13442.
4.	Gupta MP, Talcott KE, Kim DY, et al. Retinal findings and a novel TINF2 mutation in revesz syndrome: clinical and molecular correlations with pediatric retinal vasculopathies[J]. Ophthalmic Genet, 2017, 38(1): 51-60. DOI: 10.1080/13816810.2016.1275019.
5.	Moussa K, Huang JN, Moore AT, et al. Revesz syndrome masquerading as traumatic retinal detachment[J]. J AAPOS, 2017, 21(5): 422-425. DOI: 10.1016/j.jaapos.2017.04.016.
6.	Riyaz A, Riyaz N, Jayakrishnan MP, et al. Revesz syndrome[J]. Indian J Pediat, 2007, 74(9): 862-863. DOI: 10.1007/s12098-007-0155-2.
7.	Scheinfeld MH, Lui YW, Kolb EA, et al. The neuroradiological findings in a case of Revesz syndrome[J]. Pediat Radiol, 2007, 37(11): 1166-1170. DOI: 10.1007/s00247-007-0592-0.
8.	Walne AJ, Vulliamy T, Beswick R, et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes[J]. Blood, 2008, 112(9): 3594-3600. DOI: 10.1182/blood-2008-05-153445.
9.	Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita[J]. Am J Hum Genet, 2008, 82(2): 501-509. DOI: 10.1016/j.ajhg.2007.10.004.
10.	Sasa GS, Ribes-Zamora A, Nelson ND, et al. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood[J]. Clin Genet, 2012, 81(5): 470-478. DOI: 10.1111/j.1399-0004.2011.01658.x.
11.	Karremann M, Neumaier-Probst E, Schlichtenbrede F, et al. Revesz syndrome revisited[J]. Orphanet J Rare Dis, 2020, 15(1): 299. DOI: 10.1186/s13023-020-01553-y.

1. McElnea EM, van der Spek N, Smith O, et al. Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity[J]. J AAPOS, 2013, 17(6): 634-636. DOI: 10.1016/j.jaapos.2013.07.016.
2. Finzi A, Morara M, Pichi F, et al. Vitreous hemorrhage secondary to retinaI vasculopathy in a patient with dyskeratosis congenita[J]. Int Ophthalmol, 2014, 34(4): 923-926. DOI: 10.10071s10792-013.9867-7.
3. Glousker G, Touzot F, Revy P, et al. Unraveling the pathogenesis of hoyeraal-hreidarsson syndrome, a complex telomere biology disorder[J]. Br J Haematol, 2015, 170(4): 457-471. DOI: 10.1111/bjh.13442.
4. Gupta MP, Talcott KE, Kim DY, et al. Retinal findings and a novel TINF2 mutation in revesz syndrome: clinical and molecular correlations with pediatric retinal vasculopathies[J]. Ophthalmic Genet, 2017, 38(1): 51-60. DOI: 10.1080/13816810.2016.1275019.
5. Moussa K, Huang JN, Moore AT, et al. Revesz syndrome masquerading as traumatic retinal detachment[J]. J AAPOS, 2017, 21(5): 422-425. DOI: 10.1016/j.jaapos.2017.04.016.
6. Riyaz A, Riyaz N, Jayakrishnan MP, et al. Revesz syndrome[J]. Indian J Pediat, 2007, 74(9): 862-863. DOI: 10.1007/s12098-007-0155-2.
7. Scheinfeld MH, Lui YW, Kolb EA, et al. The neuroradiological findings in a case of Revesz syndrome[J]. Pediat Radiol, 2007, 37(11): 1166-1170. DOI: 10.1007/s00247-007-0592-0.
8. Walne AJ, Vulliamy T, Beswick R, et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes[J]. Blood, 2008, 112(9): 3594-3600. DOI: 10.1182/blood-2008-05-153445.
9. Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita[J]. Am J Hum Genet, 2008, 82(2): 501-509. DOI: 10.1016/j.ajhg.2007.10.004.
10. Sasa GS, Ribes-Zamora A, Nelson ND, et al. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood[J]. Clin Genet, 2012, 81(5): 470-478. DOI: 10.1111/j.1399-0004.2011.01658.x.
11. Karremann M, Neumaier-Probst E, Schlichtenbrede F, et al. Revesz syndrome revisited[J]. Orphanet J Rare Dis, 2020, 15(1): 299. DOI: 10.1186/s13023-020-01553-y.

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以眼底病變為首發癥狀的Revesz綜合征1例

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