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

Autor:	Burstedt M; Clinical Sciences/Ophthalmology, University of Umeå, Umeå, Sweden., Whelan JH; Memorial University of Newfoundland, St John's, Newfoundland, Canada., Green JS; Memorial University of Newfoundland, St John's, Newfoundland, Canada., Holopigian K; Novartis Institutes for BioMedical Research, East Hanover, New Jersey, United States., Spera C; Novartis Pharma AG, Basel, Switzerland., Greco E; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., Deslandes JY; Novartis Institutes for BioMedical Research, East Hanover, New Jersey, United States., Wald M; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., Grosskreutz C; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., Ni X; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., Normand G; Novartis Institutes for BioMedical Research, East Hanover, New Jersey, United States., Maker M; Novartis Institutes for BioMedical Research, East Hanover, New Jersey, United States., Charil A; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., Rosol M; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., He Y; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States., Stasi K; Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States.
Jazyk:	angličtina
Zdroj:	Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 Oct 03; Vol. 64 (13), pp. 42.
DOI:	10.1167/iovs.64.13.42
Abstrakt:	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. Results: Of the 45 patients enrolled, 38 completed the full five years of follow-up. At baseline, patients had BCVA ranging from -0.2 to 1.3 logMAR, poor CS, HVF defects, and prominent thinning in central foveal thickness. All patients had extremely prolonged DA rod recovery of approximately six 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, correlation coefficient [CC]: 0.606; left eye, CC: -0.578; P < 0.001) and HVF MD values decreased with age (right eye, CC: -0.672, left eye, CC: -0.654; P < 0.001). However, no major changes in functional or structural measures were noted longitudinally over the five-year period. Conclusions: This natural history study, which is the first study to monitor patients with RLBP1 RD for five 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.
Databáze:	MEDLINE
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