Abstract
This chapter is about Incontinentia pigmenti. The ocular, skin, and neurologic manifestations are explained and illustrated. Angiography pictures are also included.
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Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clin Genet. 2014;85:536–42. Epub 2013 July 21.
Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: a comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina. 2015;46:650–7.
Scheuerle AE. Male cases of incontinentia pigmenti: case report and review. Am J Med Genet. 1998;77:201–18.
Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D’Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat. 2008;29:595–604.
Patel CK, Fung TH, Muqit MM, Mordant DJ, Geh V. Non-contact ultra-widefield retinal imaging and fundus fluorescein angiography of an infant with incontinentia pigmenti without sedation in an ophthalmic office setting. J AAPOS. 2013;17:309–11.
Chen CJ, Han IC, Goldberg MF. Variable expression of retinopathy in a pedigree of patients with incontinentia pigmenti. Retina. 2015;35:2627–32.
Ranchod TM, Trese MT. Regression of retinal neovascularization after laser photocoagulation in incontinentia pigmenti. Retina. 2010;30:708–9.
Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand. 2000;78:348–53.
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.
Minić S, Trpinac D, Obradović M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis. 2013;8:25.
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993;30:53–9.
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Spandau, U., Kim, S.J. (2019). Incontinentia Pigmenti. In: Pediatric Retinal Vascular Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-13701-4_3
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DOI: https://doi.org/10.1007/978-3-030-13701-4_3
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