The ocular clinical features and treatment of 18 cases young infants with incontinentia pigmenti_Chinese Journal of Ocular Fundus Diseases

Authors：

Liu Weiwei ¹ , Lu Yuebing ¹ , Sun Shuang ¹ , Li Ping ¹ , Chu Yingying ¹ , Liu Ting ¹ , Yu Jifeng ² ,  Sun Xiantao ¹

1. Department of Ophthalmology, Zhengzhou Children's Hospital, Children's Hospital of Henan Province, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China;
2. Department of Ophthalmology, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China;

Corresponding author：

Sun Xiantao, Email: sunxt38019896@163.com

Keywords：

Infants; Incontinentia pigmenti; Retinal diseases; Disease attributes; Laser coagulation; Intravitreal injections; Angiogenesis inhibitors

DOI：

10.3760/cma.j.cn511434-20210914-00514

Video：

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Objective To observe the ocular clinical features and efficacy of young infants with incontinentia pigmenti (IP). Methods A retrospective study. Clinical data of 18 young infants with IP aged 0-3 months in the Department of Ophthalmology of Henan Children's Hospital from October 2017 to February 2019 were collected in this study. All patients were underwent fundus examination under topical anesthesia or general anesthesia. Among them, 9 cases were underwent genetic testing. Patients were determined whether to treated with retinal laser photocoagulation (LIO) or intravitreal conbercept (IVC, 0.25 mg/0.025 ml) according to the condition of eyes. The followed-up time ranged from 4months to 43 months. The ocular clinical features and treatment were observed. Results There were 1 male and 17 females of the 18 patients. The age of first visit were 1.2±1.0 months (2 d-3 months). All cases had typical skin lesions, 4 cases had neurological symptoms, 10 cases had tooth abnormalities, and 4 cases had cicatricial alopecia. Among the 9 cases that were underwent genetic testing, 5 cases were deleted in exons 4-10 of the IKBKG gene and 1case were a heterozygous mutation c.1124delT in exon 9 of the IKBKG gene. Among the 36 eyes, 21 eyes of 13 cases with incontinentia pigmenti-associated ocular diseases were all retinopathy (58.3%,21/36). Retinopathy of 9 cases were asymmetrical (69.2%,9/13). Among the 21 eyes, 3 eyes were simple retinal pigment abnormalities (14.3%,3/21) and 18 cases had retinal vascular lesion (85.7%, 18/21). Among the 36 eyes, 8 eyes were treated; 4 eyes were underwent LIO; 3 eyes were treated with IVC; 1 eye was treated with LIO combined with IVC. They were all improved significantly after the operation without serious complications. 1 eye with retinal detachment did not undergo surgical treatment due to guardian reasons. Perceptual exotropia and eyeball atrophy was found during the follow-up. Conclusions The onset of IP-related ocular anomalies is early. The early anomalies were mainly retinal vascular abnormalities. Treatment in early time is effective.

Citation： Liu Weiwei, Lu Yuebing, Sun Shuang, Li Ping, Chu Yingying, Liu Ting, Yu Jifeng, Sun Xiantao. The ocular clinical features and treatment of 18 cases young infants with incontinentia pigmenti. Chinese Journal of Ocular Fundus Diseases, 2022, 38(3): 211-216. doi: 10.3760/cma.j.cn511434-20210914-00514 Copy

1.	Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013[J/OL]. Orphanet J Rare Dis, 2014, 9: 93[2014-06-24]. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083330/. DOI: 10.1186/1750-1172-9-93.
2.	Poziomczyk CS, Recuero JK, Bringhenti L, et al. Incontinentia pigmenti[J]. An Bras Dermatol, 2014, 89(1): 26-36. DOI: 10.1590/abd1806-4841.20142584.
3.	彭婕, 张琦, 龙新纯, 等. 色素失禁症的眼部表现及治疗[J]. 中华眼底病杂志, 2015, 31(3): 307-309. DOI: 10.3760/cma.j.issn.1005-1015.2015.03.028.Peng J, Zhang Q, Long XC, et al. Ocular manifestations and treatment of incontinentia pigmenti[J]. Chin J Ocul Fundus Dis, 2015, 31(3): 307-309. DOI: 10.3760/cma.j.issn.1005-1015.2015.03.028.
4.	Liao SL, Lai SH, Huang JL, et al. Serial cytokine expressions in infants with incontinentia pigmenti[J]. Immunobiology, 2013, 218(5): 772-779. DOI: 10.1016/j.imbio.2012.08.280.
5.	Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti[J]. Acta Ophthalmol Scand, 2000, 78(3): 348-353. DOI: 10.1034/j.1600-0420.2000.078003348.x.
6.	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. DOI: 10.1093/hmg/ddh192.
7.	Minić S, Obradović M, Kovacević I, et al. Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis[J]. Srp Arh Celok Lek, 2010, 138(7-8): 408-413. DOI: 10.2298/sarh1008408m.
8.	王雪, 梁建宏. 色素失禁症相关性视网膜病变5例的临床分析[J]. 中华眼科杂志, 2019, 55(4): 294-301. DOI: 10.3760/cma.j.issn.0412-4081.2019.04.012.Wang X, Liang JH. Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor[J]. Chin J Ophthalmol, 2019, 55(4): 294-301. DOI: 10.3760/cma.j.issn.0412-4081.2019.04.012.
9.	Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. J Med Genet, 1993, 30(1): 53-59. DOI: 10.1136/jmg.30.1.53.
10.	李曼红, 张自峰, 王雨生. 色素失禁症[M]//王雨生. 图说小儿眼底病. 北京: 人民卫生出版社, 2018: 124-130. Li MH, Zhang ZF, Wang YS. Incontinentia pigmenti[M]//Wang YS. Illustrated essentials of pediatric vitreoretinal diseases. Beijing: People's Medical Publishing House, 2018: 124-130.
11.	Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. Ophthalmology, 1993, 100(11): 1645-1654. DOI: 10.1016/s0161-6420(93)31422-3.
12.	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. DOI: 10.1038/35013114.
13.	Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update[J]. Clin Genet, 2014, 85(6): 536-542. DOI: 10.1111/cge.12223.
14.	王亮, 李曼红, 张自峰, 等. 婴幼儿色素失禁症相关眼部病变的临床特征分析[J]. 中华实验眼科杂志, 2021, 39(1): 34-41. DOI: 10.3760/cma.j.cn11598920200624-00451.Wang L, Li MH, Zhang ZF, et al. Clinical features of ocular anomalies in infants with incontinentia pigmenti[J]. Chin J Exp Ophthalmol, 2021, 39(1): 34-41. DOI: 10.3760/cma.j.cn11598920200624-00451.
15.	Peng J, Zhang Q, Long XC, et al. Incontinentia pigmenti-associated ocular anomalies of paediatric incontinentia pigmenti patients in China[J]. Acta Ophthalmol, 2019, 97(3): 265-272. DOI: 10.1111/aos.13781.
16.	Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: a comprehensive review and update[J]. Ophthalmic Surg Lasers Imaging Retina, 2015, 46(6): 650-657. DOI: 10.3928/23258160-20150610-09.
17.	Yang Y, Guo Y, Ping Y, et al. Neonatal incontinentia pigmenti: six cases and a literature review[J]. Exp Ther Med, 2014, 8(6): 1797-1806. DOI: 10.3892/etm.2014.2011.
18.	王琼, 丁小燕, 黄思建, 等. 色素失禁症相关视网膜病变12例患者临床分析[J]. 中华眼底病杂志, 2021, 37(4): 277-283. DOI: 10.3760/cma.j.cn51143420200826-00407.Wang Q, Ding XY, Huang SJ, et al. Clinical features and treatment of 12 cases with incontinentia pigmenti-associated retinopathy[J]. Chin J Ocul Fundus Dis, 2021, 37(4): 277-283. DOI: 10.3760/cma.j.cn51143420200826-00407.
19.	Nakao S, Nishina S, Tanaka S, et al. Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti[J]. Jpn J Ophthalmol, 2020, 64(6): 613-620. DOI: 10.1007/s10384-020-00768-7.
20.	Sanghi G, Dogra MR, Ray M, et al. Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagul-ation[J]. Indian J Ophthalmol, 2011, 59(3): 255-256. DOI: 10.4103/0301-4738.81022.
21.	Cernichiaro-Espinosa LA, Patel NA, Bauer MS, et al. Revascularization after intravitreal bevacizumab and laser therapy of bilateral retinal vascular occlusions in incontinentia pigmenti (Bloch-Sulzberger syndrome)[J/OL]. Ophthalmic Surg Lasers Imaging Retina, 2019, 50(2): e33-e37[2015-02-01]. https://pubmed.ncbi.nlm.nih.gov/30768227/. DOI: 10.3928/ 23258160-20190129-16.
22.	Narang S, Sindhu M, Jain S, et al. Retinal imaging in incontinentia pigmenti[J]. Indian J Ophthalmol, 2019, 67(6): 944-945. DOI: 10.4103/ijo.IJO_417_19.
23.	Shah PK, Bachu S, Narendran V, et al. Intravitreal bevacizumab for incontinentia pigmenti[J/OL]. J Pediatr Ophthalmol Strabismus, 2013, 50: e52-e54[2013-10-29]. https://pubmed.ncbi.nlm.nih.gov/25313552/. DOI: 10.3928/01913913-20131022-01.

1. Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013[J/OL]. Orphanet J Rare Dis, 2014, 9: 93[2014-06-24]. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083330/. DOI: 10.1186/1750-1172-9-93.
2. Poziomczyk CS, Recuero JK, Bringhenti L, et al. Incontinentia pigmenti[J]. An Bras Dermatol, 2014, 89(1): 26-36. DOI: 10.1590/abd1806-4841.20142584.
3. 彭婕, 张琦, 龙新纯, 等. 色素失禁症的眼部表现及治疗[J]. 中华眼底病杂志, 2015, 31(3): 307-309. DOI: 10.3760/cma.j.issn.1005-1015.2015.03.028.Peng J, Zhang Q, Long XC, et al. Ocular manifestations and treatment of incontinentia pigmenti[J]. Chin J Ocul Fundus Dis, 2015, 31(3): 307-309. DOI: 10.3760/cma.j.issn.1005-1015.2015.03.028.
4. Liao SL, Lai SH, Huang JL, et al. Serial cytokine expressions in infants with incontinentia pigmenti[J]. Immunobiology, 2013, 218(5): 772-779. DOI: 10.1016/j.imbio.2012.08.280.
5. Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti[J]. Acta Ophthalmol Scand, 2000, 78(3): 348-353. DOI: 10.1034/j.1600-0420.2000.078003348.x.
6. 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. DOI: 10.1093/hmg/ddh192.
7. Minić S, Obradović M, Kovacević I, et al. Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis[J]. Srp Arh Celok Lek, 2010, 138(7-8): 408-413. DOI: 10.2298/sarh1008408m.
8. 王雪, 梁建宏. 色素失禁症相关性视网膜病变5例的临床分析[J]. 中华眼科杂志, 2019, 55(4): 294-301. DOI: 10.3760/cma.j.issn.0412-4081.2019.04.012.Wang X, Liang JH. Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor[J]. Chin J Ophthalmol, 2019, 55(4): 294-301. DOI: 10.3760/cma.j.issn.0412-4081.2019.04.012.
9. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. J Med Genet, 1993, 30(1): 53-59. DOI: 10.1136/jmg.30.1.53.
10. 李曼红, 张自峰, 王雨生. 色素失禁症[M]//王雨生. 图说小儿眼底病. 北京: 人民卫生出版社, 2018: 124-130. Li MH, Zhang ZF, Wang YS. Incontinentia pigmenti[M]//Wang YS. Illustrated essentials of pediatric vitreoretinal diseases. Beijing: People's Medical Publishing House, 2018: 124-130.
11. Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. Ophthalmology, 1993, 100(11): 1645-1654. DOI: 10.1016/s0161-6420(93)31422-3.
12. 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. DOI: 10.1038/35013114.
13. Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update[J]. Clin Genet, 2014, 85(6): 536-542. DOI: 10.1111/cge.12223.
14. 王亮, 李曼红, 张自峰, 等. 婴幼儿色素失禁症相关眼部病变的临床特征分析[J]. 中华实验眼科杂志, 2021, 39(1): 34-41. DOI: 10.3760/cma.j.cn11598920200624-00451.Wang L, Li MH, Zhang ZF, et al. Clinical features of ocular anomalies in infants with incontinentia pigmenti[J]. Chin J Exp Ophthalmol, 2021, 39(1): 34-41. DOI: 10.3760/cma.j.cn11598920200624-00451.
15. Peng J, Zhang Q, Long XC, et al. Incontinentia pigmenti-associated ocular anomalies of paediatric incontinentia pigmenti patients in China[J]. Acta Ophthalmol, 2019, 97(3): 265-272. DOI: 10.1111/aos.13781.
16. Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: a comprehensive review and update[J]. Ophthalmic Surg Lasers Imaging Retina, 2015, 46(6): 650-657. DOI: 10.3928/23258160-20150610-09.
17. Yang Y, Guo Y, Ping Y, et al. Neonatal incontinentia pigmenti: six cases and a literature review[J]. Exp Ther Med, 2014, 8(6): 1797-1806. DOI: 10.3892/etm.2014.2011.
18. 王琼, 丁小燕, 黄思建, 等. 色素失禁症相关视网膜病变12例患者临床分析[J]. 中华眼底病杂志, 2021, 37(4): 277-283. DOI: 10.3760/cma.j.cn51143420200826-00407.Wang Q, Ding XY, Huang SJ, et al. Clinical features and treatment of 12 cases with incontinentia pigmenti-associated retinopathy[J]. Chin J Ocul Fundus Dis, 2021, 37(4): 277-283. DOI: 10.3760/cma.j.cn51143420200826-00407.
19. Nakao S, Nishina S, Tanaka S, et al. Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti[J]. Jpn J Ophthalmol, 2020, 64(6): 613-620. DOI: 10.1007/s10384-020-00768-7.
20. Sanghi G, Dogra MR, Ray M, et al. Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagul-ation[J]. Indian J Ophthalmol, 2011, 59(3): 255-256. DOI: 10.4103/0301-4738.81022.
21. Cernichiaro-Espinosa LA, Patel NA, Bauer MS, et al. Revascularization after intravitreal bevacizumab and laser therapy of bilateral retinal vascular occlusions in incontinentia pigmenti (Bloch-Sulzberger syndrome)[J/OL]. Ophthalmic Surg Lasers Imaging Retina, 2019, 50(2): e33-e37[2015-02-01]. https://pubmed.ncbi.nlm.nih.gov/30768227/. DOI: 10.3928/ 23258160-20190129-16.
22. Narang S, Sindhu M, Jain S, et al. Retinal imaging in incontinentia pigmenti[J]. Indian J Ophthalmol, 2019, 67(6): 944-945. DOI: 10.4103/ijo.IJO_417_19.
23. Shah PK, Bachu S, Narendran V, et al. Intravitreal bevacizumab for incontinentia pigmenti[J/OL]. J Pediatr Ophthalmol Strabismus, 2013, 50: e52-e54[2013-10-29]. https://pubmed.ncbi.nlm.nih.gov/25313552/. DOI: 10.3928/01913913-20131022-01.

Chinese Journal of Ocular Fundus Diseases

The ocular clinical features and treatment of 18 cases young infants with incontinentia pigmenti

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