Multimodal Retinal Imaging in Incontinentia Pigmenti Including Optical Coherence Tomography Angiography: Findings From an Older Cohort With Mild Phenotype

Abstract

Importance: Incontinentia pigmenti (IP) is a rare, X-linked dominant disease with potentially severe ocular complications that predominantly affect the peripheral retina. However, little is known about its effects on the macula.

Objective: To describe the structural and vascular abnormalities observed in the maculas of patients with IP and to correlate these findings with peripheral pathologies.

Design, setting, and participants: Prospective, cross-sectional study at Wilmer Eye Institute, Johns Hopkins University. Five participants with a clinical diagnosis of IP were included and underwent multimodal imaging with ultra-wide-field fluorescein angiography (FA), spectral-domain optical coherence tomography (OCT), and OCT angiography.

Main outcomes and measures: The structural and vascular abnormalities observed on spectral-domain OCT and OCT angiography and their correlation with peripheral pathologies seen on ultra-wide-field FA.

Results: A total of 9 eyes from 5 patients (median age, 20.5 years; range, 8.4-54.2 years) were included. Median Snellen visual acuity was 20/32 (range, 20/16 to 20/63). ultra-wide-field FA-identified retinal vascular abnormalities in all 7 eyes in which FA was obtained. These abnormalities included microaneurysms, areas of nonperfusion, and vascular anastomoses, most of which were peripheral to the standard view of 30° FA with peripheral sweeps. Structural abnormalities were observed in 6 eyes on spectral-domain OCT, including inner retinal thinning and irregularities in the outer plexiform layer. Optical coherence tomography angiography abnormalities were noted in all 9 eyes, including decreased vascular density, abnormal vascular loops, and flow loss in the superficial and deep plexuses, which corresponded to areas of retinal thinning on spectral-domain OCT.

Conclusions and relevance: Although our study is limited by the small sample size, the findings suggest that multimodal imaging is useful for detecting structural and vascular abnormalities that may not be apparent on ophthalmoscopy in patients with IP. Macular pathologies, especially a decrease in vascular density on OCT angiography, are common. Further studies are needed to characterize further the association between macular and peripheral abnormalities in patients with IP.

Figure 1.. Representative Ultra–Wide-Field Fluorescein Angiographic Findings

A, Patient 3, right eye. An anomalous vascular loop (arrowhead) and large areas of nonperfusion (yellow dotted lines) are seen in the inferotemporal quadrant. B, Patient 3, left eye. Broad, vascular anastomoses (arrowhead) and extensive nonperfusion peripheral to the anastomoses are seen temporally. C, Patient 5, right eye. Broad vascular anastomoses (arrowhead) and extensive nonperfusion are seen in the superotemporal quadrant. D, Patient 5, left eye. Multiple vascular anastomotic loops and pathologically straightened vessels (arrowhead) are seen nasally.

Figure 2.. Representative Spectral-Domain Optical Coherence Tomography Findings

A, Patient 1, left eye. Irregular outer plexiform layer in the temporal juxtafoveal area (arrowhead). B, Patient 3, right eye. Irregular outer plexiform layer in the inferonasal juxtafoveal area (arrowhead). C, Patient 4, right eye. Inner retinal thinning in the inferotemporal macula (arrowhead). D, Patient 5, right eye. Inner retinal thinning in the superotemporal macula (arrowhead).

Figure 3.. Pathological Changes on Optical Coherence Tomography Angiography, Highlighted by Yellow Dotted Lines

A, Patient 1, left eye, 3 × 3 mm, superficial plexus. Qualitatively abnormal vessels temporal to fovea. B, Patient 2, left eye, 3 × 3 mm, superficial plexus. Small area of flow loss and vascular loops temporal to fovea. C and D, Patient 4, right eye, 3 × 3 mm. Flow loss in the superficial (C) and deep (D) plexus inferotemporal to the fovea, corresponding to an area of inner retinal thinning.

Figure 4.. Pathological Changes on Optical Coherence Tomography Angiography, Highlighted by Yellow Dotted Lines

A and B, Patient 5, right eye, 3 × 3 mm. Flow loss in the superficial (A) and deep (B) plexus inferotemporal to the fovea. C and D, Patient 5, right eye, 6 × 6 mm. Multiple areas of flow loss in the superficial (C) and deep (D) plexus in the temporal macula, corresponding to an area of inner retinal thinning.