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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...

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Detalles Bibliográficos
Autores principales: Burstedt, Marie, Whelan, James H., Green, Jane S., Holopigian, Karen, Spera, Claudio, Greco, Erin, Deslandes, Jean-Yves, Wald, Michael, Grosskreutz, Cynthia, Ni, Xiao, Normand, Guillaume, Maker, Michael, Charil, Arnaud, Rosol, Michael, He, Yunsheng, Stasi, Kalliopi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615144/
https://www.ncbi.nlm.nih.gov/pubmed/37883093
http://dx.doi.org/10.1167/iovs.64.13.42
Descripción
Sumario: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.