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Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti

  • Clinical Investigation
  • Published:
Japanese Journal of Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

To describe the clinical features and treatment outcomes of severe retinopathy in eyes with incontinentia pigmenti (IP) of infants within a few months of birth.

Study design

Retrospective clinical study.

Methods

Six eyes of three patients (6-day-old girl, 5-month-old girl, and 14-day-old boy) with IP were examined and treated under general anesthesia. Ophthalmologic examinations were performed including images from wide-angle fluorescein angiography (FA), swept-source optical coherence tomography (OCT), and OCT angiography (OCTA).

Results

Ophthalmoscopy showed prominent vascular tortuosity in five eyes, retinal hemorrhages in four eyes, and incomplete vascular development in two eyes. FA showed extensive avascularity including the posterior pole of the retina in all cases except one eye. Prompt and intensive laser photocoagulation stabilized the pre-proliferative severe retinopathy in five eyes; however, foveal structure and vessel anomalies were detected in three of six eyes by OCT and two of five eyes by OCTA.

Conclusion

Severe retinopathy in the neonatal period and infancy was present not only in the periphery but also in the posterior pole including the fovea, which might be related to retinal vascular maldevelopment. It is, therefore, recommended that wide-angle fundus FA examination be performed in the early postnatal period to detect early signs of severe retinopathy in infants with IP.

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References

  1. Garrod AE. Peculiar pigmentation of the skin of an infant. Trans Clin Soc Lond. 1906;39:216.

    Google Scholar 

  2. Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000;405:466–77.

    Article  CAS  Google Scholar 

  3. Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. 1993;100:1645–54.

    Article  CAS  Google Scholar 

  4. O’Doherty M, Mc Creery K, Green AJ, Tuwir I, Brosnahan D. Incontinentia pigmenti-ophthalmological observation of a series of cases and review of the literature. Br J Ophthalmol. 2011;95:11–6.

    Article  Google Scholar 

  5. Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: a comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina. 2015;46:650–7.

    Article  Google Scholar 

  6. Nishimura M, Oka Y, Takagi I, Yamana T, Kitano A. The clinical features and treatment of the retinopathy of Bloch-Sulzberger syndrome (incontinentia pigmenti). Jpn J Ophthalmol. 1980;24:310–9.

    Google Scholar 

  7. Ranchod TM, Trese MT. Regression of retinal neovascularization after laser photocoagulation in incontinentia pigmenti. Retina. 2010;30:708–9.

    Article  Google Scholar 

  8. Meallet MA, Song J, Stout JT. An extreme case of retinal avascularity in a female neonate with incontinentia pigmenti. Retina. 2004;24:613–5.

    Article  Google Scholar 

  9. Jandeck C, Kellner U, Foerster MH. Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti. Retina. 2004;24:631–3.

    Article  Google Scholar 

  10. Chen CJ, Han IC, Tian J, Muñoz B, Goldberg MF. Extended follow-up of treated and untreated retinopathy in incontinentia pigmenti: analysis of peripheral vascular changes and incidence of retinal detachment. JAMA Ophthalmol. 2015;133:542–8.

    Article  Google Scholar 

  11. Shah GK, Summers CG, Walsh AW, Neely KA. Optic nerve neovascularization in incontinentia pigmenti. Am J Ophthalmol. 1997;124:410–2.

    Article  CAS  Google Scholar 

  12. Batioglu F, Ozmert E. Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti. Acta Ophthalmol. 2010;88:267–8.

    Article  Google Scholar 

  13. An International Committee for the Classification of Retinopathy of Prematurity. The international classification of retinopathy of prematurity revisited. Arch Ophthalmol. 2005;123:991–9.

    Article  Google Scholar 

  14. Yokoi T, Hiraoka M, Miyamoto M, Yokoi T, Kobayashi Y, Nishina S, et al. Vascular abnormalities in aggressive posterior retinopathy of prematurity detected by fluorescein angiography. Ophthalmology. 2009;116:1377–82.

    Article  Google Scholar 

  15. Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet. 2001;69:1210–7.

    Article  CAS  Google Scholar 

  16. Shaikh S, Trese MT, Archer SM. Fluorescein angiographic findings in incontinentia pigmenti. Retina. 2004;24:628–9.

    Article  Google Scholar 

  17. DeVetten G, Ells A. Fluorescein angiographic findings in a male infant with incontinentia pigmenti. J AAPOS. 2007;11:511–2.

    Article  Google Scholar 

  18. Lin KL, Hirose T, Kroll AJ, Lou PL, Ryan EA. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition. Semin Ophthalmol. 2009;24:70–6.

    Article  Google Scholar 

  19. Shah PK, Bachu S, Narendran V, Kalpana N, David J, Srinivas CR. Intravitreal bevacizumab for incontinentia pigmenti. J Pediatr Ophthalmol Strabismus. 2013;50:52–4.

    Google Scholar 

  20. Goldberg MF. Macular vasculopathy and its evolution in incontinentia pigmenti. Trans Am Ophthalmol Soc. 1998;96:55–65.

    CAS  Google Scholar 

  21. Basilius J, Young MP, Michaelis TC, Michaelis TC, Hobbs R, Jenkins G, et al. Structural abnormalities of the inner macula in incontinentia pigmenti. JAMA Ophthalmol. 2015;133:1067–72.

    Article  Google Scholar 

  22. Mangalesh S, Chen X, Tran-Viet D, Viehland C, Freedman SF, Toth CA. Assessment of the retinal structure in children with incontinentia. Retina. 2017;37:1568–74.

    Article  Google Scholar 

  23. Liu TYA, Han IC, Goldberg MF, Linz MO, Chen CJ, Scott AW. Multimodal retinal imaging in incontinentia pigmenti including optical coherence tomography angiography: findings from an older cohort with mild phenotype. JAMA Ophthalmol. 2018;136:467–72.

    Article  Google Scholar 

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Acknowledgements

We thank the patients and their parents/guardians for participating in this study. This work was supported by grants from the National Center for Child Health and Development 28-2 and the Japan Agency for Medical Research and Development 19gk0110034h0002.

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Authors and Affiliations

  1. Laboratory for Visual Science, Department of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, Japan

    Shiro Nakao, Sachiko Nishina, Shin Tanaka, Tomoyo Yoshida, Tadashi Yokoi & Noriyuki Azuma

Authors
  1. Shiro Nakao
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  2. Sachiko Nishina
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  3. Shin Tanaka
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  4. Tomoyo Yoshida
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  5. Tadashi Yokoi
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  6. Noriyuki Azuma
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Correspondence to Noriyuki Azuma.

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Conflicts of interest

S. Nakao, None; S. Nishina, None; S. Tanaka, None; T. Yoshida, None; T. Yokoi, None; N. Azuma, None.

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Corresponding Author: Noriyuki Azuma

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Nakao, S., Nishina, S., Tanaka, S. et al. Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti. Jpn J Ophthalmol 64, 613–620 (2020). https://doi.org/10.1007/s10384-020-00768-7

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  • DOI: https://doi.org/10.1007/s10384-020-00768-7

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