A 17-Year Retrospective Review of the Incidence, Diagnosis and Outcomes of Retinal Pathology in Infants with Incontinentia Pigmenti
Robert H. Henderson, MD, FRCOphth; Neda Alband, FRCP; S. Chien Wong, FRCOphth; Anna Martinez, FRCP
Great Ormond Street Hospital for Children
London, United Kingdom
Introduction: Incontinentia Pigmenti (IP) is an X-linked genodermatosis caused by mutations in the IKBKG gene with cutaneous, neurological, ophthalmic, and dental manifestations. 16-66% (1,2) of patients have ocular pathology including retinal ischaemia which can have sight threatening implications. The peripheral retinal non-perfusion is difficult to identify through standard indirect ophthalmoscopy, but can lead to retinal detachment and blindness.
Methods: A hospital database search was performed of all patients with IP from 1998-2015. The diagnosis was made by a dermatologist in conjunction with a geneticist together with results of mutational analysis. The primary endpoint was the presence of ocular pathology. In 2014 a new vitreoretinal unit was established and all patients subsequently were screened with Retcam FFA.
Results: 26 infants (25 female, 1 male) were identified with IP during the study period. Ophthalmic information was obtained on 23 patients; 15 were prior to 2014. The mean age at first ophthalmology review was 124 days, the first dermatology appointment was 74 days. 8/46 (17%) eyes had abnormalities on clinical exam, 2 eyes presented with retinal detachment. Prior to 2014, 26% had FFA performed; after 2014 3/8 (19%) had clinical abnormalities, but 14/16 eyes (88%) had peripheral non-perfusion on FFA.
Discussion: Retinal detachment was identified in 6% of eyes at presentation suggesting earlier eye screening is necessary. FFA identified peripheral ischaemia in the majority of patients with significantly greater sensitivity.
Conclusion: FFA should be performed on all infants with IP to facilitate earlier intervention and to reduce the risk of retinal detachment.
1) Swinney CC, Han DP, Karth PA, Incontinentia Pigmenti: a comprehensive review and update, Opthalmic Surg Lasers Retina, 2015 Jun;46(6):650-7
2) O’Doherty M, McCreery K, Green AJ. Incontinentia Pigmenti- ophthalmological observation of a series of cases and review of the literature. Br J Ophthalmol. 2011;95:11-16.