Novel photobiomodulation therapy enhances color discrimination of color vision deficiency due to OPN1LW and/or OPN1MW gene mutations

Peihong Wang,Yuqi Wang,Liang Jia

medRxiv (Cold Spring Harbor Laboratory)(2023)

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摘要
Purpose To investigate the correlations of OPN1LW/OPN1MW (LW/MW) genotypes and clinical phenotypes in individuals with protan/deutan congenital color vision deficiency(CVD), and to explore photobiomodulation (PBM) therapy effects for CVD. Design Single-center consecutive, retrospective, observational study Participants 43 subjects (41 males and 2 females) of protan/deutan CVD from the senior ophthalmology department of the PLA General Hospital. Methods Open-label, single-arm, 4-week pilot trial. Analysis of genetic, clinical, and color vision tests was performed cross-sectionally and longitudinally. Registered with the Chinese Clinical Trial Registry website (ChiCTR2200056761). Main Outcome Measures types of LW/MW variants, correlation of genotype and phenotype, color discrimination improvements of CVD after PBM therapy. Results Clinically, the LW gene mutation (8 cases) causes protan CVD, the MW gene mutation (17 cases) and no definite gene mutation (10 cases) cause deutan CVD, dual mutations of LW and MW cause protan (5 cases) or deutan (3 cases) CVD. After individualized therapy, the effects of the MW gene mutation and no definite gene mutation groups are better than those of the LW gene mutation and dual mutations groups. Conclusions For protan/deutan CVD, PBM therapy can enhance color discrimination, and the result of gene detection is helpful to diagnose the clinical phenotype and predict the therapeutic effects of color vision correction. Financial Disclosure(s) The authors have no proprietary or commercial interest in any of the materials discussed in this article. ### Competing Interest Statement The authors have declared no competing interest. ### Clinical Trial ChiCTR2200056761 ### Funding Statement This study did not receive any funding ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: Medical Ethics Committee of People's Liberation Army General Hospital I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data produced in the present study are available upon reasonable request to the authors * CVD : Color Vision Deficiency LW : OPN1LW MW : OPN1MW PBM : Photobiomodulation FM-100 : Farnsworth-Munsell 100 Hue Color Vision Test Ishihara’s : Ishihara’s color blindness test HDR = High Dynamic Range VR : Virtual Reality
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关键词
novel photobiomodulation therapy,color vision deficiency,mutations,color discrimination
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