The majority of patients with incontinentia pigmenti (IP) had retinal disease on fluorescein angiography, according to a poster presented at the American Academy of Ophthalmology (AAO) 2020 Virtual meeting. In addition, data from the poster suggested that retinal disease severity and the presence of central nervous system (CNS) disease may be correlated.
IP is a rare X-linked dominant condition with characteristic dermatologic findings and an estimated prevalence of 1.2 per 100,000, according to Ian Danford, MD, of Casey Eye Institute, Oregon Health and Science University, and colleagues. Subtle retinal disease in IP can be missed with ophthalmoscopy and detected by fluorescein angiography (FA).
Therefore, Dr. Danford and colleagues performed a consecutive case series of all new patients with IP at three centers that obtained FA on all patients with IP, as well as a cross-sectional study from nine clinical sites with image collections and chart review to determine presence of CNS disease. Two masked graders were asked to assess FA images for severity on a three-point scale: 0=no disease, 1=vascular abnormalities without leakage, 2=leakage or neovascularization, 3=retinal detachment.
A significantly greater proportion of cases were visible by FA compared with ophthalmoscopy (P=0.014). Retinal disease was detected in 19 of 40 patients (48%) using ophthalmoscopy compared with 27 of 36 patients (75%) using FA.
Patients from all sites with CNS disease were graded with significantly higher FA severity scores than those without CNS disease (P=0.034). The median FA severity score was 2 in patients with CNS disease and 1 in patients without CNS disease.
These results indicate that retinal disease in IP is much more prevalent than previously reported, Dr. Danford and colleagues wrote.
“We suggest that ophthalmologists should prioritize retrieving an FA in all patients with IP early in their presentation,” they wrote. “More severe retinal disease is associated with a higher rate of CNS disease and the study of retinal tissue in situ by means of multimodal imaging may elucidate the vasculopathic underpinnings of neurological maladies in IP.”
This study was designated a “Best Poster” by AAO 2020 Virtual meeting organizers.