Analysis of Retinitis Pigmentosa Progression Rate based on Genotype and Clinical Factors

Abstract

Purpose : Retinitis Pigmentosa (RP), the most common genetic retinopathy, is caused by a variety of genes. In this study, we aimed to compare the progression RP in different genotypes and to determine the long-term course of RP by using Optical Coherence Tomography (OCT).

Methods : This is a retrospective longitudinal study of patients (n = 161) with RP from 2017 to 2023 using the Seoul National University Hospital database. OCT images were used to compare the progression of RP using the length of inner segment ellipsoid (ISe) present around the macula for 5 years. Genes associated with RP that were compared for progression included EYS, USH2A, ABCA4, PDE6B, NR2E3, RP1, PRPF31, CNGB1 and others. We identified an association between the length of ISe and the rate of progression at the time of diagnosis of RP. To analyze the data, one-way analysis of variance, curve-linear regression and multivariable regression analysis were used.

Results : A total of 268 eyes of 161 patients were evaluated to analyze the progression. When comparing the rate of progression among the genotypes of RP over 5 years, the PDE6B genotype was significantly faster in 1-year change in ISe length (196.3 ± 87.0 um/year) and the ABCA4 genotype was significantly slower (82.3 ± 43.3 um/year) (P = 0.045) and also significantly in the 1-year rate change, PDE6B genotype was the fastest (8.16 ± 5.05 %/year) and ABCA4 genotype was the slowest (4.03 ± 2.35 %/year), (P = 0.050). (Figure 1) In addition, there was a significant association between ISe length at baseline and ISe band shortening velocity for five years from baseline (r² = 0.363, P < 0.001). (Figure 2)

Conclusions : This study provides evidence that different genotypes of RP have different rates of progression of RP and that the rate of progression decreases as RP progresses into the macula. We also found that the more advanced the RP, the slower the rate of progression, so this study may be helpful in providing this information to patients with RP in real-world practice.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.

 

Comparison of ISe band shortening velocity calculated by ISe band shortening length [A] and ISe band shortening percentile [B] at 1 year according to retinitis pigmentosa associated genotypes.

 

Association of the tendency between inner segment ellipsoid band length at baseline and inner segment ellipsoid band shortening velocity from baseline for 5 years (r² = 0.363, P < 0.001).