Early management of sight threatening retinopathy in incontinentia pigmenti
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(2020) 15:223
RESEARCH
Open Access
Early management of sight threatening retinopathy in incontinentia pigmenti Sarah Michel1*, Clothilde Reynaud1, Alejandra Daruich1,2, Smail Hadj-Rabia3,4, Dominique Bremond-Gignac1,2, Christine Bodemer3,4† and Matthieu P. Robert1,5†
Abstract Background: Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP. Results: 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. 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 months, and then once a year. Urgent laser therapy was performed under anesthesia in case of signs of retinal ischemia. Nineteen children files (17 girls) were studied. Median age at IP diagnosis was 1 day [0–44]; median age at first retinal evaluation was 25 days. Retinal manifestations occurred in 7 patients (n = 10/38 eyes, 26.3%); they were diagnosed at median age 19 days [3–59]. 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 years [3–9.8]). Conclusion: 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. Keywords: Incontinentia pigmenti, Vasculopathy, Early screening, Early preventive laser therapy, Retinal detachment
Background Incontinentia pigmenti (IP) is a rare X-linked dominant disease that affects the skin, eyes, central nervous system and teeth. The disease is due to mutations in the gene encoding the protein NEMO (NF-κB Essential Modulator), which modulates the transcription factor NF-κB [1]. This results in aberrant regulation of the transcription of * Correspondence: [email protected] † Christine Bodemer and Matthieu P. Robert contributed equally to this work. 1 Ophthalmology Department and Rare Eye Disease Reference Center OPHTARA, Necker-Enfants malades University Hospital, AP-HP, Paris, France Full list of author information is available at the end of the article
multiple genes involved in immune, inflammatory and apoptotic responses. Retinal manifestations are likely due to vaso-occlusive phenomenon and inflammatory disorder. Usually lethal in male fetuses, IP predominates in women. While the dermatological findings, usually leading to IP diagnosis within the first days of lif
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