Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study.

Purpose: To evaluate the performance of two non-disease-specific patient-reported outcome (PRO) instruments, the National Eye Institute Visual Function Questionnaire-25 (VFQ-25) and the Low Luminance Questionnaire (LLQ), in patients with retinaldehyde-binding protein 1 retinal dystrophy (RLBP1 RD).

Methods: PROs were assessed using the VFQ-25 and LLQ. Rasch analysis was conducted to estimate person and item measures of the VFQ-25 and LLQ questionnaires to determine the association between the two PROs.

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.

Purpose: To assess the progression in functional and structural measures over a five-year period in patients with retinal dystrophy caused by RLBP1 gene mutation.

Methods: This prospective, noninterventional study included patients with biallelic RLBP1 mutations from two clinical sites in Sweden and Canada. Key assessments included ocular examinations, visual functional measures (best-corrected visual acuity [BCVA], contrast sensitivity [CS], dark-adaptation [DA] kinetics up to six hours for two wavelengths [450 and 632 nm], Humphrey visual fields [HVF], full-field flicker electroretinograms), and structural ocular assessments.

In situ characterization of liquids at high pressure combining X-ray tomography, X-ray diffraction and X-ray absorption using the white beam station at PSICHÉ.

A novel experimental setup dedicated to the study of liquid and amorphous materials, on the white beam station of the PSICHÉ beamline at SOLEIL, is described. The Beer-Lambert absorption method has been developed using a broad-spectrum (white) incident beam for in situ density measurements at extreme conditions of pressure and temperature. This technique has been combined with other existing X-ray techniques (radiographic imaging, tomography and combined angle energy dispersive X-ray diffraction).

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).

Introduction: RLBP1 RP is an autosomal recessive form of retinitis pigmentosa (RP), characterized by night blindness, prolonged dark adaptation, constricted visual fields and impaired macular function. This study aimed to better understand the patient experience of RLBP1 RP and evaluate the content validity of existing patient reported outcome (PRO) instruments in this condition.

Methods: Semi-structured concept elicitation and cognitive debriefing interviews were conducted with RLBP1 RP patients in Canada and Sweden.

High-speed tomography under extreme conditions at the PSICHE beamline of the SOLEIL Synchrotron.

In situ microtomography at high pressure and temperature has developed rapidly in the last decade, driven by the development of new high-pressure apparatus. It is now routinely possible to characterize material under high pressure with acquisition times for tomograms of the order of tens of minutes. Here, advantage was taken of the possibility to combine the use of a pink beam projected through a standard Paris-Edinburgh press in order to demonstrate the possibility to perform high-speed synchrotron X-ray tomography at high pressure and temperature allowing complete high-resolution tomograms to be acquired in about 10 s.