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Retinal dystrophy a...
Retinal dystrophy associated with RLBP1 retinitis pigmentosa : a five-year prospective natural history study
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- Burstedt, Marie (author)
- Umeå universitet,Oftalmiatrik
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- Whelan, James H. (author)
- Memorial University of Newfoundland, St John's, Newfoundland, Canada
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- Green, Jane S. (author)
- Memorial University of Newfoundland, St John's ,Newfoundland, Canada
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- Holopigian, Karen (author)
- Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
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- Spera, Claudio (author)
- Novartis Pharma AG, Basel, Switzerland
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- Greco, Erin (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- Deslandes, Jean-Yves (author)
- Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
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- Wald, Michael (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- Grosskreutz, Cynthia (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- Ni, Xiao (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- Normand, Guillaume (author)
- Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
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- Maker, Michael (author)
- Novartis Institutes for BioMedical Research, NJ, East Hanover, United States
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- Charil, Arnaud (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- Rosol, Michael (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- He, Yunsheng (author)
- Novartis Institutes for BioMedical Research, MA, Cambridge, United States
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- Stasi, Kalliopi (author)
- 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
- English.
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In: Investigative Ophthalmology and Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 64:13
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- RLBP1
- retinitis pigmentosa
- disease progression
- dark adaptation
- progressive vision loss
- inherited retinal degeneration
- retinal dystrophy
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Burstedt, Marie
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Whelan, James H.
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Green, Jane S.
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Holopigian, Kare ...
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Spera, Claudio
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Greco, Erin
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show more...
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Deslandes, Jean- ...
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Wald, Michael
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Grosskreutz, Cyn ...
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Ni, Xiao
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Normand, Guillau ...
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Maker, Michael
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Charil, Arnaud
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Rosol, Michael
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He, Yunsheng
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Stasi, Kalliopi
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
- Articles in the publication
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Investigative Op ...
- By the university
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Umeå University