Abstract
Purpose :
Incontinentia pigmenti (IP) is a rare condition characterized by skin changes, dental abnormalities, central nervous system abnormalities and ocular abnormalities in the retina and elsewhere. We performed a retrospective review of all patients with IP who underwent ophthalmic examination in order to report the ocular and systemic findings in a real-world, tertiary referral setting.
Methods :
In this single-center, retrospective, longitudinal cohort study, patients with a diagnosis of IP seen at the Emory Eye Center over the past 11 years were identified. A review of all available medical records was performed.
Results :
15 patients and 30 eyes meeting inclusion criteria were identified. 14 of 15 patients (93.3%) were female. Ophthalmic manifestations of IP were documented in 7 of 15 patients. Retinal abnormalities were documented in 9 of 30 eyes (30.3%) with peripheral avascular retina in 8 eyes (26.7%). Fluorescein angiography was conducted on 7 of 15 patients (46.7%) which demonstrated peripheral nonperfusion in 50% and neovascularization in 14.3%. 1 patient had a tractional retinal detachment. 3 eyes of 2 patients were treated with panretinal photocoagulation. Non-retinal findings were present in 3 patients and included strabismus (n=3) and nystagmus (n=1). 11 of 15 patients (73.3%) had skin findings with all 11 having Stage 3 skin involvement. 5 of 15 patients (33.3%) had CNS involvement - including seizures (n=5), developmental delay (n=2), and/or motor delay (n=2). 4 of 15 patients (44.4%) had documented dental abnormalities. Genetic testing results were available for 9 of 15 patients (60%) and 7 of those tested (77.8%) had mutations in the NEMO gene. 5 of 15 patients (33.3%) underwent skin biopsy and all 5 revealed eosinophilic spongiogsis. Overall, 11 of 15 patients (73.3%) were diagnosed based on genetic testing and/or skin biopsy - the remainder were diagnosed based on clinical findings alone.
Conclusions :
The prevalence of ocular findings in IP in our study was 47% with 71.4% of those patients having retinal abnormalities. A wide range of systemic manifestations was also noted. These findings underscore the need for a multidisciplinary approach to management, including baseline and continued ophthalmic examinations in all patients with IP.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.