Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging

Thiago Cabral, Jesse D Sengillo, Jimmy K Duong, Sally Justus, Katherine Boudreault, Kaspar Schuerch, Rubens Belfort Jr, Vinit B Mahajan, Janet R Sparrow, Stephen H Tsang, Thiago Cabral, Jesse D Sengillo, Jimmy K Duong, Sally Justus, Katherine Boudreault, Kaspar Schuerch, Rubens Belfort Jr, Vinit B Mahajan, Janet R Sparrow, Stephen H Tsang

Abstract

In this report, we assess the natural progression rate of retinitis pigmentosa (RP) over an average of three years using spectral-domain optical coherence tomography (SD-OCT) and short wavelength fundus autofluorescence (SW-AF). Measurement of the ellipsoid zone (EZ) line width and hyperautofluorescent ring diameters was performed in 81 patients with RP in a retrospective, longitudinal fashion. Rate of structural disease progression, symmetry between eyes, and test-retest variability were quantified. We observed on average, EZ-line widths decreased by 140 µm (5.2%, p < 0.001) per year, and average horizontal and vertical hyperautofluorescent ring diameters decreased by 149 µm (3.6%, p < 0.001) and 120 µm (3.9%, p < 0.001) per year, respectively. The 95th percentile of this cohort had differences in progression slopes between eyes that were less than 154 µm, 118 µm, and 132 µm for EZ-line width and horizontal and vertical ring diameters, respectively. For all measures except horizontal ring diameter, progression rates were significantly slower at end-stage disease. From our data, we observed a statistically significant progression rate in EZ line width and SW-AF ring diameters over time, verifying the utility of these measurements for disease monitoring purposes. Additionally, calculated differences in progression slopes between eyes may prove useful for investigators evaluating the efficacy of unilateral treatments for RP in clinical trials.

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
Longitudinal SD-OCT and SW-AF images of a 16-year-old man with autosomal dominant retinitis pigmentosa associated with a mutation in the PRPF31 gene. SW-AF images (left column) show characteristic hyperautofluorescent rings and SD-OCT (right column) images visualize the EZ line. Solid lines; sample measurement. Dashed lines; initial measurement. Asterisk; endpoints on EZ-line.
Figure 2
Figure 2
Trajectory of progression. Graphical representation of structural progression of each RP patient for EZ line width (first row), horizontal ring diameter (second row), and vertical diameter (third row). The raw data for each individual patient, followed time at each visit, is represented in the first column. Overall progression (second column), progression for patients with a baseline measurement ≤3000 µm (third column), and progression for patients with a baseline measurement >3000 µm (fourth column) is illustrated as a linear approximation for each patient. Single bold line in each graph represents average progression.
Figure 3
Figure 3
Correlation between measurements for initial visit. Each of the three structural measurements were plotted as a function of the other two measurements. Scatterplots show high correlation between EZ-line width and both SW-AF ring diameters (first and second panel), and between horizontal and vertical ring diameters (third panel).

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