Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure

Abstract

Purpose To evaluate whether the length of the inner segment ellipsoid (ISe) band can be used as a prognostic factor for disease course in retinitis pigmentosa (RP) patients with EYS mutations by observation over a period of 5 years. Methods Twelve RP patients with EYS mutations were studied. The horizontal and vertical ISe length of the right eye was manually measured at five time points annually, using spectral domain optical coherence tomography. A regression line through the five points from baseline to the final measurement was drawn and the ratio of the length (%) at each point to the baseline length was calculated; the slope was defined as the rate of ISe shortening (%/year). The correlation between the rate of ISe shortening and age, visual acuity, and mean deviation (MD) value were evaluated. The intraclass correlation coefficient (ICC) for the measurements was calculated. Results The mean rate of ISe shortening was − 4.65 ± 2.89% per year and the decline was statistically significant. The rate of shortening was significantly negatively correlated with the baseline length (P = 0.046, r = 0.58), but not with the baseline age, visual acuity, and MD value. The ICC (2, 1) was 0.999. Conclusions ISe of all RP patients with EYS mutations shortened during the 5 years of annual observation. The measurement of the length of ISe is a simple and convenient method with high repeatability, and the length is a sensitive prognostic factor for the rate of ISe shortening in RP patients with EYS mutations.

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

“…We also calculated the rate of shortening as a percentage from baseline to enable comparison with two studies in EYS patients. Our estimate was À3.69% 6 0.51%, which corresponds with the findings of two previous studies, reporting a rate of À4.65% 6 2.89% (n ¼ 12) 22 and À5.6% 6 2.6% per year (n ¼ 4). 21 Two-thirds of RP patients in our cohort had typical hyperautofluorescent rings, and one-third had a crescent shape hyperautofluorescent pattern, as described by Sengillo et al 24 The crescent pattern was associated with larger VFs and, therefore, milder disease progression.…”

“…Additionally, we calculated the rate of decline of the ellipsoid zone width as a percentage of baseline allowing comparison with other studies. 21,22…”

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

“…Two models of progression were considered. To permit comparison with a previously reported cohort of EYS patients [ 23 ], a linear model showed a constriction rate of 5.8% per year when the initial IS/OS extent of each patient was normalized to 100%. An exponential decay model [ 35 ] showed a constriction rate of 12% per year.…”

“…A model of exponential decay was used [ 22 ]. For comparison with a previously reported cohort of EYS patients, the rate of constriction was calculated using an alternative model of linear progression [ 23 ].…”

Concentric Choriocapillaris Flow Deficits in Retinitis Pigmentosa Detected Using Wide-Angle Swept-Source Optical Coherence Tomography Angiography

“…1 Recent advances in retinal imaging, especially optical coherence tomography (OCT), have enabled detailed evaluations of the inner retina, 2,3 RPE, 4,5 choroid, 6,7 and photoreceptors. 8,9 However, evaluation of the choriocapillaris, which directly nourishes the outer retina has been challenging.…”