TY - JOUR
T1 - The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti
AU - Danford, Ian D.
AU - Scruggs, Brittni A.
AU - Capone, Antonio
AU - Trese, Michael T.
AU - Drenser, Kim A.
AU - Thanos, Aristomenis
AU - Nudleman, Eric
AU - Amphornphruet, Atchara
AU - Tipsuriyaporn, Boontip
AU - Hubbard, G. Baker
AU - Ells, Anna
AU - Harper, C. Armitage
AU - Goldstein, Jessica
AU - Calvo, Charles
AU - Wallace-Carrete, Chris
AU - Berry, Duncan
AU - Chang, Emmanuel
AU - Leishman, Lisa
AU - Shapiro, Michael
AU - Blair, Michael
AU - Mikhail, Mikel
AU - Shields, Carol L.
AU - Schwendeman, Rachel
AU - Yonekawa, Yoshihiro
AU - Gupta, Mrinali P.
AU - Orlin, Anton
AU - Prakhunhungsit, Supalert
AU - Mukai, Shizuo
AU - Berrocal, Audina
AU - Hartnett, M. Elizabeth
AU - Campbell, J. Peter
N1 - Publisher Copyright:
© 2022 American Academy of Ophthalmology
PY - 2022/12
Y1 - 2022/12
N2 - Purpose: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease. Design: Multi-institutional consecutive retrospective case series. Subjects: New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018. Methods: Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation. Main Outcome Measures: The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease. Results: Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034. Conclusions: Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease.
AB - Purpose: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease. Design: Multi-institutional consecutive retrospective case series. Subjects: New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018. Methods: Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation. Main Outcome Measures: The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease. Results: Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034. Conclusions: Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease.
KW - CNS disease
KW - Fluorescein angiography
KW - Incontinentia pigmenti
KW - Retinopathy
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U2 - 10.1016/j.oret.2022.05.032
DO - 10.1016/j.oret.2022.05.032
M3 - Article
C2 - 35691580
AN - SCOPUS:85133884434
SN - 2468-7219
VL - 6
SP - 1113
EP - 1121
JO - Ophthalmology Retina
JF - Ophthalmology Retina
IS - 12
ER -