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Retinal dystrophy associated with RLBP1 retinitis pigmentosa : a five-year prospective natural history study

Burstedt, Marie (författare)
Umeå universitet,Oftalmiatrik
Whelan, James H. (författare)
Memorial University of Newfoundland, St John's, Newfoundland, Canada
Green, Jane S. (författare)
Memorial University of Newfoundland, St John's ,Newfoundland, Canada
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Holopigian, Karen (författare)
Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
Spera, Claudio (författare)
Novartis Pharma AG, Basel, Switzerland
Greco, Erin (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
Deslandes, Jean-Yves (författare)
Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
Wald, Michael (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
Grosskreutz, Cynthia (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
Ni, Xiao (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
Normand, Guillaume (författare)
Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
Maker, Michael (författare)
Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
Charil, Arnaud (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
Rosol, Michael (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
He, Yunsheng (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
Stasi, Kalliopi (författare)
Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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 (creator_code:org_t)
Association for Research in Vision and Ophthalmology (ARVO), 2023
2023
Engelska.
Ingår i: Investigative Ophthalmology and Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 64:13
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oftalmologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Ophthalmology (hsv//eng)

Nyckelord

RLBP1
retinitis pigmentosa
disease progression
dark adaptation
progressive vision loss
inherited retinal degeneration
retinal dystrophy

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