{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T05:44:54Z","timestamp":1781934294944,"version":"3.54.5"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T00:00:00Z","timestamp":1598486400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T00:00:00Z","timestamp":1598486400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Early blindness secondary to incurable retinal detachment is one of the main complications of <jats:italic>incontinentia pigmenti<\/jats:italic> (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven.<\/jats:p>\n<jats:p>The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>All files of patients diagnosed with IP within the two first months of life in a single tertiary referral center, between 2010 and 2015, were retrospectively included. The minimum follow-up duration was three years.<\/jats:p>\n<jats:p>Patients had undergone systematic indirect ophthalmoscopy examination, looking for signs of peripheric retinal vasculopathy, according to a standardized schedule: at diagnosis, at age 1, 2, 3, 6, 9, 12, 18 and 24\u2009months, and then once a year. Urgent laser therapy was performed under anesthesia in case of signs of retinal ischemia.<\/jats:p>\n<jats:p>Nineteen children files (17 girls) were studied. Median age at IP diagnosis was 1\u2009day [0\u201344]; median age at first retinal evaluation was 25\u2009days. Retinal manifestations occurred in 7 patients (<jats:italic>n<\/jats:italic>\u2009=\u200910\/38 eyes, 26.3%); they were diagnosed at median age 19\u2009days [3\u201359]. These patients underwent one or two ablative session per eye (mean 1.7, median 2), under general anaesthesia. No retinal detachment or fold occurred during the follow-up (median 6\u2009years [3\u20139.8]).<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Ocular screening should be performed in all cases of IP as soon as possible after diagnosis. A strict ophthalmological monitoring and prophylactic treatment of retinal vasculopathy can efficiently prevent the early blinding complications of the disease.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13023-020-01509-2","type":"journal-article","created":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T14:02:47Z","timestamp":1598536967000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Early management of sight threatening retinopathy in incontinentia pigmenti"],"prefix":"10.1186","volume":"15","author":[{"given":"Sarah","family":"Michel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clothilde","family":"Reynaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Daruich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bremond-Gignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu P.","family":"Robert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,27]]},"reference":[{"issue":"6785","key":"1509_CR1","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1038\/35013114","volume":"405","author":"A Smahi","year":"2000","unstructured":"Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, et al. 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Such studies are based on the absence of opposition from patients whose files were included. No such opposition has been expressed by any patient\u2019s family.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"223"}}