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

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.

Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

“…The average reduction in the width of EZ among patients with RP has been reported to be 95 to 219 μm per year. 36,37 Here we determined that the EZ decreased on average 140 to 170 μm per year, which is between the rates reported for patients with autosomal recessive RP (arRP; -128 μm per year) and Xlinked RP (XLRP; -219 μm per year). 38 Other forms of dominant RP typically progress at a slower rate (-95 μm per year) 38 than do XLRP or arRP.…”

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy

“…The estimated decline in ellipsoid zone width was À57 6 17 lm per year, which was less than in previous publications where yearly decline varied between À76.4 lm to À248 lm. [25][26][27][28][29] However, these estimates were based on RP patients with different underlying genetic defects and inheritance modes. We also calculated the rate of shortening as a percentage from baseline to enable comparison with two studies in EYS patients.…”

A distinct retinal pigment epithelial cell autofluorescence pattern in choroideremia predicts early involvement of overlying photoreceptors

“…The method we employed of drawing borders around distinct FAF regions and superimposing them onto corresponding OCT images has previously been used to study the relationship between FAF and ellipsoid zone in retinitis pigmentosa and Stargardt disease (Wakabayashi et al 2010;Greenstein et al 2015;Cabral et al 2017). The relationship between FAF and ellipsoid zone in choroideremia has been reported in a few studies.…”