色素失禁症的眼部表现及治疗_Chinese Journal of Ocular Fundus Diseases

Authors：

彭婕 , 张琦 , 龙新纯 , 黄秋婧 , 李忆安 ,  赵培泉

200092 上海交通大学医学院附属新华医院眼科(彭婕、张琦、黄秋婧、李忆安、赵培泉); 湖南省郴州市第一人民医院皮肤科(龙新纯);

Corresponding author：

赵培泉, Email: zhaopeiquan@126.com

Keywords：

色素失调症/并发症; 视网膜疾病/诊断; 视网膜疾病/治疗; 综述

DOI：

10.3760/cma.j.issn.1005-1015.2015.03.028

Video：

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色素失禁症(IP)是一种临床较少见的X染色体显性遗传病, 主要侵犯皮肤、牙齿、眼睛、神经系统及骨骼。视力丧失及中枢神经系统症状是其严重临床表现。眼部特征性表现为视网膜血管异常及视网膜色素上皮改变。IP及其眼部病变诊断主要是根据其临床表现、皮肤病理改变及基因分析。全身病变治疗主要为对症。眼部病变治疗可视情况分别采用激光光凝、冷冻、抗血管内皮生长因子药物及玻璃体切割手术。认识IP及其眼部病变的临床特征, 重视科间合作, 及时、规范的眼底检查以及早期诊断治疗有助于保护患者视功能。

Citation： 彭婕, 张琦, 龙新纯, 黄秋婧, 李忆安, 赵培泉. 色素失禁症的眼部表现及治疗. Chinese Journal of Ocular Fundus Diseases, 2015, 31(3): 307-309. doi: 10.3760/cma.j.issn.1005-1015.2015.03.028 Copy

1.	Minic S, Obradovic M, Kovacevic I, et al. Ocular anomalies in incontinentia pigmenti:literature review and meta-analysis[J]. Srp Arh Celok Lek, 2010, 138(7-8):408-413.
2.	Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti[J]. Acta Ophthalmol Scand, 2000, 78(3):348-353.
3.	Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations[J]. Hum Mol Genet, 2001, 10(19):2171-2179.
4.	Carney RG. Incontinentia pigmenti:a world statistical analysis[J]. Arch Dermatol, 1976, 112(4):535-542.
5.	Liao SL, Lai SH, Huang JL, et al. Serial cytokine expressions in infants with incontinentia pigmenti[J]. Immunobiology, 2013, 218(5):772-779.
6.	Poziomczyk CS, Recuero JK, Bringhenti L, et al. Incontinentia pigmenti[J]. An Bras Dermatol, 2014, 89(1):26-36.
7.	Pacheco TR, Levy M, Collyer JC, et al. Incontinentia pigmenti in male patients[J]. J Am Acad Dermatol, 2006, 55(2):251-255.
8.	Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium[J]. Nature, 2000, 405(6785):466-472.
9.	Fusco F, Bardaro T, Fimiani G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation[J]. Hum Mol Genet, 2004, 13(16):1763-1773.
10.	李莉, 宋国维, 杜军保, 等.色素失禁症NEMOΔ4~10基因片段缺失的初步研究[J].中华儿科杂志, 2005, 43(2):89-92.
11.	Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. Ophthalmology, 1993, 100(11):1645-1654.
12.	Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti:a review and update on the molecular basis of pathophysiology[J]. J Am Acad Dermatol, 2002, 47(2):169-190.
13.	Cohen PR. Incontinentia pigmenti:clinicopathologic characteristics and differential diagnosis[J]. Cutis, 1994, 54(3):161-166.
14.	Cohen PR, Kurzrock R. Miscellaneous genodermatoses:Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples[J]. Dermatol Clin, 1995, 13(1):211-229.
15.	Francois J. Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes[J]. Br J Ophthalmol, 1984, 68(1):19-25.
16.	Minic S, Novotny GE, Trpinac D, et al. Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities[J]. Clin Oral Investig, 2006, 10(4):343-347.
17.	Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. J Med Genet, 1993, 30(1):53-59.
18.	Okita M, Nakanishi G, Fujimoto N, et al. NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients[J]. J Dermatol, 2013, 40(4):272-276.
19.	Kouzak SS, Mendes MS, Costa IM. Cutaneous mosaicisms:concepts, patterns and classifications[J]. An Bras Dermatol, 2013, 88(4):507-517.
20.	樊子川, 张萍, 杨琳, 等.色素失禁症临床表型与NEMO基因突变7例并文献复习[J].中国循证儿科杂志, 2013, 8(3):205-209.
21.	Smith B, Bedrossian EH Jr. Incontinentia pigmenti associated with nasolacrimal duct obstruction[J]. Ophthalmic Surg, 1984, 15(12):980-982.
22.	Goldberg MF. Macular vasculopathy and its evolution in incontinentia pigmenti[J]. Ophthalmic Genet, 1998, 19(3):141-148.
23.	Goldberg MF. The blinding mechanisms of incontinentia pigmenti[J]. Ophthalmic Genet, 1994, 15(2):69-76.
24.	Shah GK, Summers CG, Walsh AW, et al. Optic nerve neovascularization in incontinentia pigmenti[J]. Am J Ophthalmol, 1997, 124(3):410-412.
25.	Ferreira RC, Ferreira LC, Forstot L, et al. Corneal abnormalities associated with incontinentia pigmenti[J]. Am J Ophthalmol, 1997, 123(4):549-551.
26.	O'doherty M, Mc Creery K, Green AJ, et al. Incontinentia pigmenti——ophthalmological observation of a series of cases and review of the literature[J]. Br J Ophthalmol, 2011, 95(1):11-16.
27.	Findlay GH. On the pathogenesis of incontinentia pigmenti, with observations on an associated eye disturbance resembling retrolental fibroplasia[J]. Br J Dermatol, 1952, 64(4):141-146.
28.	Cates CA, Dandekar SS, Flanagan DW, et al. Retinopathy of incontinentia pigmenti:a case report with thirteen years follow-up[J]. Ophthalmic Genet, 2003, 24(4):247-252.
29.	Rahi J, Hungerford J. Early diagnosis of the retinopathy of incontinentia pigmenti:successful treatment by cryotherapy[J]. Br J Ophthalmol, 1990, 74(6):377-379.
30.	Yu YS, Cho BJ. Cryotherapy for retinopathy of incontinentia pigmenti[J]. Korean J Ophthalmol, 1991, 5(1):47-50.
31.	Nguyen JK, Brady-Mccreery KM. Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti[J]. J AAPOS, 2001, 5(4):258-259.
32.	Batioglu F, Ozmert E. Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti[J]. Acta Ophthalmol, 2010, 88(2):267-268.
33.	Sanghi G, Dogra MR, Ray M, et al. Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation[J]. Indian J Ophthalmol, 2011, 59(3):255-256.
34.	Catalano RA, Lopatynsky M, Tasman WS. Treatment of proliferative retinopathy associated with incontinentia pigmenti[J]. Am J Ophthalmol, 1990, 110(6):701-702.
35.	Shaikh S, Trese MT, Archer SM. Fluorescein angiographic findings in incontinentia pigmenti[J]. Retina, 2004, 24(4):628-629.
36.	Wald KJ, Mehta MC, Katsumi O, et al. Retinal detachments in incontinentia pigmenti[J]. Arch Ophthalmol, 1993, 111(5):614-617.
37.	Jandeck C, Kellner U, Foerster MH. Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti[J]. Retina, 2004, 24(4):631-633.
38.	Lin KL, Hirose T, Kroll AJ, et al. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition[J]. Semin Ophthalmol, 2009, 24(2):70-76.
39.	Shah PK, Bachu S, Narendran V, et al. Intravitreal bevacizumab for incontinentia pigmenti[J]. J Pediatr Ophthalmol Strabismus, 2013, 50:52-54.
40.	朱雪梅, 梁建宏, 黎晓新.抗血管内皮生长因子药物治疗皮肤色素失禁症相关性视网膜病变一例[J].中华眼底病杂志, 2015, 31(1):88-89.
41.	Brown CA. Incontinentia pigmenti:the development of pseudoglioma[J]. Br J Ophthalmol, 1988, 72(6):452-455.
42.	Mensheha-Manhart O, Rodrigues MM, Shields JA, et al. Retinal pigment epithelium in incontinentia pigmenti[J]. Am J Ophthalmol, 1975, 79(4):571-577.

1. Minic S, Obradovic M, Kovacevic I, et al. Ocular anomalies in incontinentia pigmenti:literature review and meta-analysis[J]. Srp Arh Celok Lek, 2010, 138(7-8):408-413.
2. Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti[J]. Acta Ophthalmol Scand, 2000, 78(3):348-353.
3. Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations[J]. Hum Mol Genet, 2001, 10(19):2171-2179.
4. Carney RG. Incontinentia pigmenti:a world statistical analysis[J]. Arch Dermatol, 1976, 112(4):535-542.
5. Liao SL, Lai SH, Huang JL, et al. Serial cytokine expressions in infants with incontinentia pigmenti[J]. Immunobiology, 2013, 218(5):772-779.
6. Poziomczyk CS, Recuero JK, Bringhenti L, et al. Incontinentia pigmenti[J]. An Bras Dermatol, 2014, 89(1):26-36.
7. Pacheco TR, Levy M, Collyer JC, et al. Incontinentia pigmenti in male patients[J]. J Am Acad Dermatol, 2006, 55(2):251-255.
8. Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium[J]. Nature, 2000, 405(6785):466-472.
9. Fusco F, Bardaro T, Fimiani G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation[J]. Hum Mol Genet, 2004, 13(16):1763-1773.
10. 李莉, 宋国维, 杜军保, 等.色素失禁症NEMOΔ4~10基因片段缺失的初步研究[J].中华儿科杂志, 2005, 43(2):89-92.
11. Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. Ophthalmology, 1993, 100(11):1645-1654.
12. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti:a review and update on the molecular basis of pathophysiology[J]. J Am Acad Dermatol, 2002, 47(2):169-190.
13. Cohen PR. Incontinentia pigmenti:clinicopathologic characteristics and differential diagnosis[J]. Cutis, 1994, 54(3):161-166.
14. Cohen PR, Kurzrock R. Miscellaneous genodermatoses:Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples[J]. Dermatol Clin, 1995, 13(1):211-229.
15. Francois J. Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes[J]. Br J Ophthalmol, 1984, 68(1):19-25.
16. Minic S, Novotny GE, Trpinac D, et al. Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities[J]. Clin Oral Investig, 2006, 10(4):343-347.
17. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. J Med Genet, 1993, 30(1):53-59.
18. Okita M, Nakanishi G, Fujimoto N, et al. NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients[J]. J Dermatol, 2013, 40(4):272-276.
19. Kouzak SS, Mendes MS, Costa IM. Cutaneous mosaicisms:concepts, patterns and classifications[J]. An Bras Dermatol, 2013, 88(4):507-517.
20. 樊子川, 张萍, 杨琳, 等.色素失禁症临床表型与NEMO基因突变7例并文献复习[J].中国循证儿科杂志, 2013, 8(3):205-209.
21. Smith B, Bedrossian EH Jr. Incontinentia pigmenti associated with nasolacrimal duct obstruction[J]. Ophthalmic Surg, 1984, 15(12):980-982.
22. Goldberg MF. Macular vasculopathy and its evolution in incontinentia pigmenti[J]. Ophthalmic Genet, 1998, 19(3):141-148.
23. Goldberg MF. The blinding mechanisms of incontinentia pigmenti[J]. Ophthalmic Genet, 1994, 15(2):69-76.
24. Shah GK, Summers CG, Walsh AW, et al. Optic nerve neovascularization in incontinentia pigmenti[J]. Am J Ophthalmol, 1997, 124(3):410-412.
25. Ferreira RC, Ferreira LC, Forstot L, et al. Corneal abnormalities associated with incontinentia pigmenti[J]. Am J Ophthalmol, 1997, 123(4):549-551.
26. O'doherty M, Mc Creery K, Green AJ, et al. Incontinentia pigmenti——ophthalmological observation of a series of cases and review of the literature[J]. Br J Ophthalmol, 2011, 95(1):11-16.
27. Findlay GH. On the pathogenesis of incontinentia pigmenti, with observations on an associated eye disturbance resembling retrolental fibroplasia[J]. Br J Dermatol, 1952, 64(4):141-146.
28. Cates CA, Dandekar SS, Flanagan DW, et al. Retinopathy of incontinentia pigmenti:a case report with thirteen years follow-up[J]. Ophthalmic Genet, 2003, 24(4):247-252.
29. Rahi J, Hungerford J. Early diagnosis of the retinopathy of incontinentia pigmenti:successful treatment by cryotherapy[J]. Br J Ophthalmol, 1990, 74(6):377-379.
30. Yu YS, Cho BJ. Cryotherapy for retinopathy of incontinentia pigmenti[J]. Korean J Ophthalmol, 1991, 5(1):47-50.
31. Nguyen JK, Brady-Mccreery KM. Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti[J]. J AAPOS, 2001, 5(4):258-259.
32. Batioglu F, Ozmert E. Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti[J]. Acta Ophthalmol, 2010, 88(2):267-268.
33. Sanghi G, Dogra MR, Ray M, et al. Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation[J]. Indian J Ophthalmol, 2011, 59(3):255-256.
34. Catalano RA, Lopatynsky M, Tasman WS. Treatment of proliferative retinopathy associated with incontinentia pigmenti[J]. Am J Ophthalmol, 1990, 110(6):701-702.
35. Shaikh S, Trese MT, Archer SM. Fluorescein angiographic findings in incontinentia pigmenti[J]. Retina, 2004, 24(4):628-629.
36. Wald KJ, Mehta MC, Katsumi O, et al. Retinal detachments in incontinentia pigmenti[J]. Arch Ophthalmol, 1993, 111(5):614-617.
37. Jandeck C, Kellner U, Foerster MH. Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti[J]. Retina, 2004, 24(4):631-633.
38. Lin KL, Hirose T, Kroll AJ, et al. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition[J]. Semin Ophthalmol, 2009, 24(2):70-76.
39. Shah PK, Bachu S, Narendran V, et al. Intravitreal bevacizumab for incontinentia pigmenti[J]. J Pediatr Ophthalmol Strabismus, 2013, 50:52-54.
40. 朱雪梅, 梁建宏, 黎晓新.抗血管内皮生长因子药物治疗皮肤色素失禁症相关性视网膜病变一例[J].中华眼底病杂志, 2015, 31(1):88-89.
41. Brown CA. Incontinentia pigmenti:the development of pseudoglioma[J]. Br J Ophthalmol, 1988, 72(6):452-455.
42. Mensheha-Manhart O, Rodrigues MM, Shields JA, et al. Retinal pigment epithelium in incontinentia pigmenti[J]. Am J Ophthalmol, 1975, 79(4):571-577.

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色素失禁症的眼部表现及治疗

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