Early management of sight threatening retinopathy in incontinentia pigmenti

• Published in: Orphanet journal of rare diseases Vol. 15; no. 1; p. 223
• Main Authors: Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 27.08.2020; BioMed Central; BMC
• Subjects: Adult; Age; Algorithms; Anesthesia; Blindness; Care and treatment; Child; Child, Preschool; Diagnosis; Early preventive laser therapy; Early screening; Efficiency; Female; Fluorescein Angiography; General anesthesia; Health aspects; Human health and pathology; Humans; Incontinentia pigmenti; Incontinentia Pigmenti - complications; Infant; Infant, Newborn; Infants; Infants (Newborn); Ischemia; Lasers; Lasers in medicine; Lasers in surgery; Life Sciences; Medical research; Medicine, Preventive; Neonates; Pediatrics; Preventive health services; Rare diseases; Retina; Retinal detachment; Retinal Detachment - etiology; Retinal Diseases - etiology; Retinopathy; Retrospective Studies; Sensory Organs; Vascular diseases; Vascular endothelial growth factor; Vasculopathy; Vision disorders in children; Young Adult; Early preventive laser therapy; Retinal detachment; Vasculopathy; Early screening; Incontinentia pigmenti
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-020-01509-2

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. 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]). 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.