Burstedt, Marie, Whelan, James, Green, Jane, Holopigian, Karen, Spera, Claudio, Greco, Erin, Deslandes, Jean-Yves, Wald, Michael, Grosskreutz, Cyndy, Ni, Xiao, Meyers-Normand, Guillaume, Maker, Michael, Charil, Arnaud, Rosol, Michael, He, Yunsheng and Stasi, Kalliopi (2023) Retinal dystrophy associated with RLBP1 retinitis pigmentosa: A 5-year prospective natural history study. investigative Ophthalmology and vision science, 64 (13). pp. 1-13. ISSN Online ISSN: 1552-5783

Abstract

Purpose: To assess the progression in functional and structural measures over a period of 5 years in patients with retinal dystrophy due to RLBP1 gene mutation.
Methods: This prospective, non-interventional study included patients from two clinical sites in Sweden and Canada with biallelic RLBP1 mutations. Key assessments included: ocular examinations; visual functional measures (best corrected visual acuity [BCVA], contrast sensitivity [CS], dark-adaptation [DA] kinetics up to 6 hours for 2 wavelengths [450 and 632 nm], Humphrey visual fields [HVF], full-field flicker electroretinograms [ERG]); and structural ocular assessments.
Results: Of the 45 patients enrolled, 38 completed the full five years of follow-up. At baseline, patients had good vision to severe visual loss, poor CS, HVF defects, and prominent thinning in central foveal thickness. All patients had extremely prolonged DA rod recovery of ~6 hours at both wavelengths. The test-retest repeatability was high across all anatomic and functional endpoints. Cross-sectionally, poorer VA was associated with older age (right eye 0.606, left eye 0.578; p<0.001) and HVF MD values decreased with age (right eye -0.672, left eye -0.654; p<0.001). However, no major changes in functional or structural measures were noted longitudinally over the 5-year period.
Conclusions: This natural history study, which is the first study to follow patients with RLBP1 RD for 5 years, showed that severely delayed DA sensitivity recovery, a characteristic feature of this disease, was observed in all patients across all age groups (17-69 years), making it a potentially suitable efficacy assessment for gene therapy treatment in this patient population.

Item Type:	Article
Date Deposited:	17 Nov 2023 00:45
Last Modified:	17 Nov 2023 00:45
URI:	https://oak.novartis.com/id/eprint/49254